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Updated: Jan 2, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.

G Leemans¹, L De Raeve², K Keymolen³

¹Department of Dermatology and Pathology, Universitair Ziekenhuis Brussel (UZB), Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Journal of the European Academy of Dermatology and Venereology : JEADV

|December 6, 2019

Summary

This study investigates a rare genetic disorder, Trichothiodystrophy (TTD), linked to the ERCC2 gene mutation. The findings confirm the c.2164C>T variant

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Area of Science:

Genetics
Molecular Biology
Dermatology

Background:

Trichothiodystrophy (TTD) is a rare genetic disorder of DNA repair.
Characterized by sulfur-deficient hair, skin anomalies, and severe systemic complications.
Includes preterm delivery, neurological impairment, and life-threatening infections.

Observation:

A family with two siblings affected by TTD, both deceased before age 2.
Clinical and molecular characteristics of the affected siblings were analyzed.

Findings:

The causal gene mutation identified is in ERCC2.
A specific variant, c.2164C>T (p.Arg722Trp), was found.
This mutation is associated with a severe TTD phenotype, supporting previous research.

Implications:

Accurate genetic diagnosis is crucial for TTD.
Genetic identification guides clinical management and family counseling.
Further research can elucidate the precise role of ERCC2 mutations in TTD pathogenesis.