Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Am J Med Genet A. 2021 Feb;185(2):614-616. doi: 10.1002/ajmg.a.61949. Epub 2020 Nov 1.
3-M syndrome is a rare autosomal recessive disorder, characterized by short stature, characteristic facies and absence of microcephaly and intellectual disability. 3-M syndrome 2 (MIM# 612921) is caused by biallelic disease causing variants in OBSL1. In this study, we identified two probands from two families with homozygous, c.1534 + 5G > T and compound heterozygous variants, c.35dup and c.1273dup in OBSL1, respectively. We herein highlight the clinical and molecular findings of the first reported cases from Indian ethnicity.
3-M 综合征是一种罕见的常染色体隐性遗传疾病，其特征为身材矮小、特殊面容、无小头畸形和智力残疾。3-M 综合征 2 型（MIM# 612921）是由 OBSL1 中的双等位基因致病变异引起的。在这项研究中，我们从两个家系中分别鉴定出两个先证者，他们携带 OBSL1 基因的纯合 c.1534 + 5G > T 和复合杂合 c.35dup 和 c.1273dup 变异。我们在此强调了来自印度血统的首例报道病例的临床和分子发现。
