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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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