Identification of a novel mutation (c.1172_1181 del TGGTGCAAGC (p.Leu391fs) in the CUL7 gene in a patient of 3M Syndrome

Abstract

3-M syndrome is a disorder characterized by the skeletal abnormalities including the short stature and unusual facial features. The affected people have low birth weight and length and remain much smaller than others in their family members, growing to an adult height of approximately 4 feet to 4 feet and 6 inches. In this study, we report a novel frameshift mutation (c.1172_1181delTGGTGCAAGC; p. Leu391fs) in the CUL7 gene in a patient of the 3M Syndrome. We performed the whole exome sequencing and after the identification of likely pathogenic variant, we validated the mutation with Sanger sequencing method. As per the public databases, this variant has been not reported till date. This study identified a novel frameshift mutation (c.1172_1181delTGGTGCAAGC; p. Leu391fs) in the CUL7 gene in a patient of the 3M Syndrome. The study also highpoints the clinical utility of exome sequencing in the definite diagnosis of the provisionally diagnosed genetic disorders whose ultimate diagnosis is important specially in the cases of consanguineous marriage.