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ea0033oc2.9 | Oral Communications 2 | BSPED2013

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism

Schoenmakers Nadia , Cangul Hakan , Nicholas Adeline K , Schoenmakers Erik , Lyons Greta , Dattani Mehul , Peters Catherine , Langham Shirley , Habeb Abdelhadi M , Deeb Asma , Puthi Vijith , Park Soo-Mi , Muzza Marina , Persani Luca , Fugazzola Laura , Maher Eamonn , Chatterjee V Krishna

Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...

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ea0038oc5.5 | Thyroid and parathyroid | SFEBES2015

Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

Nicholas Adeline K , Serra Eva Goncalves , Cangul Hakan , Al-Yaarubi Saif , Ullah Irfan , Habeb Abdelhadi , Deeb Asma , Peters Catherine , Dattani Mehul , Shenoy Savitha , Murray P G , Puthi Vijith , Park Soo-Mi , Nathwani Nisha , Babiker Amir , Martin Howard , Anderson Carl A , Maher Eamonn , Chatterjee V Krishna , Schoenmakers Nadia

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...

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Endocrine Abstracts

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism

Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

BiosciAbstracts