PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：Bosmaarhinia小眼症综合征（BAMS;MIM603457）是一种罕见的遗传性疾病，主要是常染色体显性。这是一种多系统发育障碍，其特征是鼻子和眼睛严重发育不全，和生殖系统缺陷。BAMS在世界范围内极为罕见，迄今为止在中国人群中尚未报告病例。SMCHD1基因（MIM614982）中的致病变异导致BAMS，而潜在的分子机制需要进一步研究。
方法：在本研究中，一名患有先天性鼻和小眼症的中国女孩被纳入研究,随后接受了全面的临床和遗传评估.全外显子组测序（WES）用于鉴定该女孩的遗传实体。杂合致病变异，NM_015295,c.1025G>C;鉴定SMCHD1的p.(Trp342Ser)。通过进行非常详细的身体和基因检查，患者被诊断为BAMS。
结论：本报告首次描述了一例中国BAMS患者的SMCHD1变异。我们的研究不仅为BAMS的咨询提供了有价值的遗传数据，但也证实了BAMS的诊断，这可能有助于该患者的治疗和预后。
方法：在本研究中，一名患有先天性鼻和小眼症的中国女孩被纳入研究,随后接受了全面的临床和遗传评估.全外显子组测序（WES）用于鉴定该女孩的遗传实体。杂合致病变异，NM_015295,c.1025G>C;鉴定SMCHD1的p.(Trp342Ser)。通过进行非常详细的身体和基因检查，患者被诊断为BAMS。
结论：本报告首次描述了一例中国BAMS患者的SMCHD1变异。我们的研究不仅为BAMS的咨询提供了有价值的遗传数据，但也证实了BAMS的诊断，这可能有助于该患者的治疗和预后。
