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A Chinese patient with Rothmund-Thomson syndrome
Juan Zeng1, Jiayi Li2,3, Yuwei Liu2,3
1Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China.
Molecular Genetics & Genomic Medicine
|December 22, 2023
Summary
Rothmund-Thomson syndrome (RTS) is a rare genetic disorder. This study identified novel RECQL4 gene mutations in a Chinese patient, expanding the known genetic variations and informing clinical diagnosis and family planning for RTS.
Area of Science:
- Genetics
- Rare Diseases
- Molecular Biology
Background:
- Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with known pathogenic variants.
- While RTS is associated with low birth weight, specific data during the fetal period are limited.
- Genetic diagnosis of RTS type II relies on identifying pathogenic variants in the RECQL4 gene.
Purpose of the Study:
- To investigate the genetic cause of Rothmund-Thomson syndrome in a Chinese patient.
- To expand the understanding of RECQL4 gene mutations and RTS phenotypes in the Chinese population.
- To provide genetic information for clinical decision-making and family planning.
Main Methods:
- Whole-genome sequencing (WGS) was performed on the patient and parents.
- Detected variants were confirmed using Sanger sequencing.
- Family members were examined to validate variant inheritance.
Main Results:
- A heterozygous nonsense mutation (c.2752G>T) and a novel frameshift insertion mutation (c.1547dupC) in the RECQL4 gene were identified.
- These compound heterozygous mutations were inherited from the parents.
- The findings expand the known mutational spectrum of RECQL4.
Conclusions:
- The study expands the mutational spectrum of the RECQL4 gene and the phenotype spectrum of Chinese RTS patients.
- Genetic findings can aid parents in making informed decisions about future pregnancies.
- This case provides a new perspective for clinicians regarding prenatal diagnosis considerations for RTS.
