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Article

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Journal of human genetics - 1 Oct 2016

Mittal Kirti, Rafiq Muhammad A, Rafiullah Rafiullah, Harripaul Ricardo, Ali Hazrat, Ayaz Muhammad, Aslam Muhammad, Naeem Farooq, Amin-Ud-Din Muhammad, Waqas Ahmed, So Joyce, Rappold Gudrun A, Vincent John B, Ayub Muhammad

Abstract excerpt

We have used single-nucleotide polymorphism microarray genotyping and homozygosity-by-descent (HBD) mapping followed by Sanger sequencing or whole-exome sequencing (WES) to identify causative mutations in three consanguineous families with intellectual disability (ID) related to thyroid dyshormonogenesis (TDH). One family was found to have a shared HBD region of 12.1 Mb on 8q24.21-q24.23 containing 36 coding...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27305979
DOI: 10.1038/jhg.2016.62

Genes

TPO
HBD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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