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Abstract

April - June 2022 | Vol. 15 | Issue 2 | 06-10
A Novel Loss-of-Function Variant in SETBP1 Causing Autosomal Dominant Mental Retardation 29 in an Asian Indian Male Child
Asodu Sandeep Sarma1, Shivangi Wagh1, Ashwin Dalal1, Prajnya Ranganath1,2
1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India 2Department of Medical Genetics, Nizam’s Institute of Medical Sciences (NIMS), Hyderabad, India
Address for Correspondence Email: prajnyaranganath@gmail.com
 
Abstract
Heterozygous gain-of-function variants in the SETBP1 gene are known to cause Schinzel-Giedion syndrome, a multiple malformation condition with typical facial dysmorphism. Heterozygous, loss-of-function variants in the same gene have been recently identified to cause a very rare genetic disorder with a less severe phenotype characterized by mild dysmorphic features, mild to moderate intellectual disability with speech delay and epilepsy, referred to as autosomal dominant mental retardation 29. Here, we describe a novel loss-of-function variant c.2622del; p.(Asp874GlufsTer87) in the SETBP1 gene identified through exome sequencing, in an Asian Indian male patient with facial dysmorphism, global developmental delay, and seizures.
 
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