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 Sang31National Center for Children’s Health, Capital Medical University, Beijing Children’s Hospital, Clinic of Immunity, Beijing, China2Baoding Children’s Hospital, Baoding Key Laboratory of Clinical Research on Children’s Respiratory and Digestive Diseases Bao Ding, Clinic of Endocrinology, Hebei, China
3National Center for Children’s Health, Capital Medical University, Beijing Children’s Hospital, Department of Endocrinology, Beijing, China
3M syndrome is an autosomal recessive disorder characterized by short stature and skeletal developmental abnormalities. A Chinese girl with 3M syndrome and a novel OBSL1 (obscurin-like 1 gene) variant is presented. 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 five cases, occurring only in Chinese individuals, suggesting ethnic specificity. In cases of children with short stature presenting with intrauterine growth retardation, low birth weight, and skeletal developmental abnormalities, 3M syndrome should be considered. The c.458dupG mutation may be a hotspot mutation in the Chinese population.
Keywords: Short stature, 3M syndrome, OBSL1 gene, intrauterine growth retardationManuscript Language: English
