Condition: Congenital Hypothyroidism


rs189261858 in LOC101928462;TSHR gene and Congenital Hypothyroidism PMID 21714469 2010 Homozygous mutation R450H of the TSHR gene led to CH.

PMID 17526952 2006 Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.

PMID 19506388 2009 Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.

PMID 19158199 2009 In Japan, TSHR mutations are relatively common among patients with CH, and a founder mutation (p.R450H) accounts for about 70% of mutants.

PMID 23926367 2009 Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.

PMID 21677043 2011 Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

PMID 21707688 2011 Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 27637299 2016 The previously reported hotspot mutation p.R450H was found in only one SCH patient.

PMID 22405933 2012 The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%.

PMID 28444304 2017 A frequent oligogenic involvement in congenital hypothyroidism.

PMID 27084275 2016 Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

PMID 24895636 2014 Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.

PMID 15693879 2005 Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.

PMID 28455095 2017 Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

PMID 26709262 2016 Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH.

PMID 23404215 2013 The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.