J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-22448 | DOI: 10.4274/jcrpe.galenos.2024.2023-11-6

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome and the c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

Yurong Piao¹, Rongmin Li², Yingjie Wang², Congli Chen³, Yanmei Sang^3
1Department of Immunity, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China
²Department of Endocrinology, Baoding Children's Hospital, Baoding Key Laboratory of Clinical Research on Children's Respiratory and Digestive Diseases Bao Ding, Hebei, China
³Department of Endocrinology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China

3M syndrome is an autosomal recessive disorder characterized by short stature and skeletal developmental abnormalities. In this study, a Chinese patient with 3M syndrome was presented. A novel OBSL1 (obscurin-like 1 gene) variant was found. The patient is a 2-year-old girl who presented with short stature and had intrauterine growth retardation and low birth weight. Gene analysis revealed compound heterozygote mutations in the OBSL1 gene: c.458dupG (p.L154Pfs*100) and c.427dupG (p.A143Gfs*111). The c.427dupG mutation is novel. The c.458dupG mutation has been documented in 5 cases, occurring only in Chinese individuals, indicating ethnic specificity. In cases of short-statured children presenting intrauterine growth retardation, low birth weight, and skeletal developmental abnormalities, 3M syndrome should be considered. The c.458dupG mutation might be a hotspot mutation in the Chinese population.

Keywords: short stature, 3M syndrome, OBSL1 gene, intrauterine growth retardation

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