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Abstract

October - December 2023 | Vol. 16 | Issue 4 | 03-07
A Novel Pathogenic Hemizygous Variant of AP1S2 Gene in a Child with Dandy-Walker Malformation, Developmental Delay, and Autism
Gayatri Nerakh
Department of Genetics, Fernandez Foundation, Hyderabad, Telangana, India.
Address for Correspondence Email: maildrgayatri@gmail.com
 
Abstract
There is a high degree of genetic and phenotypic heterogeneity for X-linked intellectual disability. Pettigrew syndrome is a rare X-linked syndromic intellectual disorder that presents with hydrocephalus with or without Dandy-Walker malformation (DWM), basal ganglia calcification, developmental delay, autism, and seizures. This is a report of a male child who presented at the age of 7.5 years with global developmental delay, autism, and behavioral disturbances. Ultrasound during the antenatal period in the third trimester had revealed hydrocephalus. Magnetic resonance imaging (MRI) of the brain after birth showed features of hydrocephalus and DWM. The chromosomal microarray was normal. Trio whole-exome sequencing (WES) revealed a novel hemizygous pathogenic variant c.286dup (p.Ser96LysfsTer4) [NM_001369007.1] in exon 3 of the AP1S2 gene related to Pettigrew syndrome and the mother was found to be heterozygous for the same variant. Though hydrocephalus and DWM are etiologically heterogeneous, AP1S2 gene-related Pettigrew syndrome should be considered in individuals who are found to have these intracranial anomalies with autism and intellectual disability.
 
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