Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

• Published in: BMC medical genomics 2024-05, Vol.17 (1), p.136-6, Article 136
• Main Authors: Yang, Jun-Lin, Gu, Heng, Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Yang, Yi-Feng, Tan, Zhi-Ping
• Format: Article
• Language: English
• Subjects: Amino acids; Analysis; Arhinia; Asian People - genetics; Bioinformatics; Bosma arhinia microphthalmia syndrome; Case Report; Cell death; China; Choanal Atresia - genetics; Chromosomal Proteins, Non-Histone - genetics; Congenital diseases; Diagnosis; Disease susceptibility; DNA methylation; East Asian People; Evaluation; Exome Sequencing; Female; Genes; Genetic counseling; Genetic disorders; Genomes; Hereditary diseases; Humans; Hypoplasia; Medical research; Medicine, Experimental; Microphthalmia; Microphthalmos - genetics; Molecular modelling; Muscular dystrophy; Mutation; Nose; Nose - abnormalities; Pathogenesis; Pathogenic microorganisms; Proteins; Reproductive system; Risk factors; SMCHD1; Software; Whole genome sequencing; Whole-exome sequencing
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-024-01907-6

Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation. In this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS. This report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.