Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

Overview

Journal Mol Syndromol

Date 2013 Jan 18

PMID 23326254

Citations 11

Authors

U H Kotecha

S Movva

R D Puri

I C Verma

Affiliations

Soon will be listed here.

Abstract

Trichohepatoenteric syndrome (THES) is characterized by chronic diarrhea, dysmorphic facies and hair abnormalities. Hepatic involvement varies from no abnormality to cirrhosis and hemochromatosis. Recently, mutations in the tetratricopeptide repeat domain 37 (TTC37) gene were identified to cause THES. The c.2808G>A variation was suggested as a possible founder mutation among the South Asians. We further report 2 unrelated cases of Asian-Indian ethnicity (Gujrati) with THES, wherein targeted mutation analysis revealed the same mutation in homozygous form in both cases. These findings, as well as haplotype analysis, corroborate the founder mutation hypothesis amongst Asian Indo-Pakistani ethnic groups. A restriction enzyme-based method is also described to identify this founder mutation. One of our probands had multiple hepatic hemangiomas, a feature not previously observed in this syndrome.

Citing Articles

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

Alrammal A, Aljundi R, Abu Ghedda S, AlMurbati B BMC Pediatr. 2024; 24(1):444.

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Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

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