A Chinese patient with Rothmund-Thomson syndrome.

ABSTRACT:

Introduction

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that has been reported in all ethnicities, with several identifiable pathogenic variants. There have been reported cases indicating that RTS may lead to low birth weight in fetuses, but specific data on the fetal period are lacking. Genetic testing for RTS II is currently carried out by identifying pathogenic variants in RECQL4.

Methods

In order to determine the cause, we performed whole-genome sequencing (WGS) analysis on the patient and his parents. Variants detected by WGS were confirmed by Sanger sequencing and examined in family members.

Results

After analyzing the WGS data, we found a heterozygous nonsense mutation c.2752G>T (p.Glu918Ter) and a novel frameshift insertion mutation

SUBMITTER: Zeng J 

PROVIDER: S-EPMC10767680 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature