Three M syndrome 2 in two Indian patients. Issue 2 (1st November 2020)

• Record Type: Journal Article
• Authors: Jacob, Prince; Girisha, Katta M.
• Is Part Of: American journal of medical genetics. Volume 185:Issue 2(2021)
• Page Start: 614
• Page End: 616
• Publication Date: 2020-11-01
• Subjects: 3‐M syndrome 2 -- autosomal recessive -- OBSL1 -- short stature; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61949
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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.