Variant: rs104894635 

    present in Gene: SGSH
    present in Chromosome: 17
    Position on Chromosome: 80213815
    Alleles of this Variant: C/A;T

rs104894635 in SGSH gene and Dysmorphic features PMID 21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

PMID 17938166 2007 Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

PMID 12687673 2003 Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

PMID 23385295 2013 Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

PMID 27896117 2014 Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.

PMID 25851924 2015 Sanfilippo syndrome: Overall review.

PMID 28921412 2018 How close are we to therapies for Sanfilippo disease?

rs104894635 in SGSH gene and Movement Disorders PMID 28921412 2018 How close are we to therapies for Sanfilippo disease?

PMID 27896117 2014 Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.

PMID 23385295 2013 Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

PMID 17938166 2007 Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

PMID 25851924 2015 Sanfilippo syndrome: Overall review.

PMID 21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PMID 12687673 2003 Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

rs104894635 in SGSH gene and Mucopolysaccharidosis III PMID 9158154 1997 Molecular defects in Sanfilippo syndrome type A.

PMID 9700599 1998 Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

rs104894635 in SGSH gene and Mucopolysaccharidosis Type IIIA PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

PMID 22976788 2012 Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs.

PMID 24816101 2014 Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

PMID 26648750 2015 Sanfilippo syndrome: causes, consequences, and treatments.

PMID 21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 9158154 1997 Molecular defects in Sanfilippo syndrome type A.

PMID 9700599 1998 Of 39 patients, for whom we have uniform clinical details, 13 MPS IIIA patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, containing respectively one or no R245H alleles.

PMID 26787381 2016 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

PMID 26331342 2016 Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

PMID 9285796 1997 Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

PMID 17128482 2006 Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.

PMID 28101780 2017 Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

PMID 9744479 1998 Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

PMID 9554748 1998 Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

PMID 18407553 2008 The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

PMID 9401012 1997 As the combined frequency of the common mutations (R74C and R245H) in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.

PMID 16311287 2006 Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.

PMID 12000360 2002 Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

PMID 11182930 2000 Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

PMID 11793481 2002 Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

PMID 10601282 1999 Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.

PMID 15146460 2004 Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

PMID 15902564 2005 Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

PMID 11343308 2001 Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.

PMID 15637719 2005 An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

PMID 12702166 2003 Analysis of Sanfilippo A gene mutations in a large pedigree.