Gene: SDHD

Alternate names for this Gene: CBT1|CII-4|CWS3|PGL|PGL1|QPs3|SDH4|cybS

Gene Summary: This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.1

Description of this Gene: succinate dehydrogenase complex subunit D

Type of Gene: protein-coding

rs786205436 in SDHD gene and Cardiomyopathies PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

rs786205436 in SDHD gene and Fatal infantile mitochondrial cardiomyopathy PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

rs104894304 in SDHD gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 17102085 2006 SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 25695889 2015 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

rs104894302 in SDHD gene and Neoplastic Syndromes, Hereditary PMID 22025150 2011 Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 16080530 2005 Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 18692411 2008 Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 26273102 2015 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

PMID 17308434 2007 Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

PMID 19223516 2009 Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.

PMID 18463041 2008 Multiple catecholamine-secreting paragangliomas: diagnosis after hemorrhagic stroke in a young woman.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 16061558 2005 Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 17848412 2007 High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.

PMID 20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 17973943 2008 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

PMID 24859990 2014 Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 19576851 2009 An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 22170724 2012 Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PMID 25300370 2014 Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.

PMID 25695889 2015 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 22290790 2013 Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.

PMID 24758185 2014 Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report.

PMID 24102379 2014 Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 25014000 2014 Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 19584903 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

PMID 9683583 1998 Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

rs104894302 in SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 22025150 2011 Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 17973943 2008 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 12509798 2003 A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 12114404 2002 Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 23902947 2013 Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 15235042 2004 The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PMID 19584903 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

rs104894302 in SDHD gene and Paraganglioma PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 20816580 2010 Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 11391798 2001 Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively.

PMID 11391798 2001 Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively.

rs104894302 in SDHD gene and Paragangliomas with Sensorineural Hearing Loss PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 22025150 2011 Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 17973943 2008 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 12114404 2002 Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

PMID 12509798 2003 A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 23902947 2013 Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.

PMID 15235042 2004 The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 19584903 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

rs104894302 in SDHD gene and Pheochromocytoma PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 22025150 2011 Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 17973943 2008 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 12114404 2002 Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 12509798 2003 A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

PMID 15235042 2004 The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

PMID 23902947 2013 Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PMID 19584903 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.