医学診断法ジャーナル
オープンアクセス

概要

Novel Mutation Documentation of 3M Syndrome by Exome Sequencing in an Indian Subject

Priyanka Vishwakarma, Ashish Dubey, Deepika Kalo, Vishal Kumar Mishra

3M syndrome is a disorder that origins the skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. They have low birth weight and length and remain much smaller than others in their family, growing to an adult height of approximately 4 feet to 4 feet 6 inches (120 centimeters to 130 centimeters). In this study we are reporting a novel mutation of 3M Syndrome in an Indian subject. We have performed exome sequencing and after identification of likely pathogenic variant we have validated this mutation with Sanger sequencing method. Further research is rational to regulate the classic and the variant presentations of this condition, with the follow-up of the patients that provides the valuable data insights into its natural history and the long-term prognosis. As per database these variants have been not reported till date, we found a novel variant in an Indian patient. This study highlights the clinical utility of the exome sequencing in the definite diagnosis of provisionally diagnosed genetic disorders.