[Genetic analysis of a child with Hypotrichosis simplex].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

Department of Dermatology, Jining No.1 People's Hospital, Jining, Shandong 272002, China.

Published: March 2024

Objective: To explore the clinical phenotype and genetic characteristics of a child with Hypotrichosis 14.

Methods: A child who had presented at the Henan Provincial People's Hospital on May 4, 2020 due to hair thinning was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples were collected from the child and her parents. Genomic DNA was extracted and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.

Results: The child, a 5-year-old female, had presented with thin, soft lanugo-like hair which was easy to fall off. The child was found to harbor compound heterozygous missense variants of the LSS gene, namely c.1609G>A (p.V537M) in exon 17 and c.802T>G (p.F268V) in exon 8, which were respectively inherited from her father and mother. Both variant sites were highly conserved, though based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as variants of unknown significance (PM2_Supporting+PP3+PP4).

Conclusion: The c.1609G>A (p.V537M) and c.802T>G (p.F268V) compound heterozygous variants of the LSS gene probably underlay the clinical phenotype in this patient.

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.cn511374-20230131-00043DOI Listing

Publication Analysis

Top Keywords

child hypotrichosis
8
clinical phenotype
8
compound heterozygous
8
variants lss
8
lss gene
8
c1609g>a pv537m
8
c802t>g pf268v
8
child
7
variants
5
[genetic analysis
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!