A Mutation in the Thyroid Hormone Receptor Alpha Gene | Zendy

Elena G. Bochukova | Zendy; Nadia Schoenmakers | Zendy; Maura Agostini | Zendy; Erik Schoenmakers | Zendy; Odelia Rajanayagam | Zendy; Julia M. Keogh | Zendy; Elana Henning | Zendy; Jana Reinemund | Zendy; Evelien Gevers | Zendy; Margarita Sarri | Zendy; Kate Downes | Zendy; Amaka C Offiah | Zendy; Assunta Albanese | Zendy; David Halsall | Zendy; John W. R. Schwabe | Zendy; Murray Bain | Zendy; Keith Lindley | Zendy; Francesco Muntoni | Zendy; Faraneh VarghaKhadem | Zendy; Mehul Dattani | Zendy; I. Sadaf Farooqi | Zendy; Mark Gurnell | Zendy; Krishna Chatterjee | Zendy

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A Mutation in the Thyroid Hormone Receptor Alpha Gene

Author(s) -

Elena G. Bochukova,

Nadia Schoenmakers,

Maura Agostini,

Erik Schoenmakers,

Odelia Rajanayagam,

Julia M. Keogh,

Elana Henning,

Jana Reinemund,

Evelien Gevers,

Margarita Sarri,

Kate Downes,

Amaka C Offiah,

Assunta Albanese,

David Halsall,

John W. R. Schwabe,

Murray Bain,

Keith Lindley,

Francesco Muntoni,

Faraneh VarghaKhadem,

Mehul Dattani,

I. Sadaf Farooqi,

Mark Gurnell,

Krishna Chatterjee

Publication year - 2011

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1110296

Subject(s) - thyroid hormone receptor alpha , thyroid hormone receptor , thyroid hormone receptor beta , thyroid , endocrinology , medicine , hormone , nonsense mutation , receptor , mutation , exome sequencing , hormone receptor , biology , gene , genetics , cancer , missense mutation , breast cancer

Thyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2) receptors. Here we describe a child with classic features of hypothyroidism (growth retardation, developmental retardation, skeletal dysplasia, and severe constipation) but only borderline-abnormal thyroid hormone levels. Using whole-exome sequencing, we identified a de novo heterozygous nonsense mutation in a gene encoding thyroid hormone receptor alpha (THRA) and generating a mutant protein that inhibits wild-type receptor action in a dominant negative manner. Our observations are consistent with defective human TRα-mediated thyroid hormone resistance and substantiate the concept of hormone action through distinct receptor subtypes in different target tissues.

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