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July - September 2021 | Vol. 14 | Issue 3 | 02-05
Exome Sequencing Reveals a Novel Homozygous Variant in WDR62 Gene in a Family with Primary Microcephaly
Ikrormi Rungsung1, Mahesh Kamate2, Ashwin Dalal1
1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India | 2Department of Pediatric Neurology, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India
Address for Correspondence Email: ashwindalal@gmail.com
Autosomal recessive primary microcephaly 2 (MCPH2) is a neurodevelopmental disease that causes reduction in brain size. Homozygous or compound heterozygous mutations in the WDR62 gene, located at the chr19q13.12 locus are reported to result in MCPH2. The most common features are reduced skull circumference and intellectual disability with or without cortical malformations. We describe a genetic variant in two siblings, a 4-year-old boy and a 15-month-old girl, with congenital microcephaly, global developmental delay, intellectual disability and hyperactivity. Exome sequencing was performed on the genomic DNA and analyses revealed a novel frameshift deletion, NM_001083961.2; c.669delC; p. Phe223fs in exon 6 of the WDR62 gene. The variant c.669delC causes a frameshift at p. Phe223fs position of the WD40-repeat 62 protein (WDR62) protein and is classified as a ‘pathogenic’ variant according to the American College of Medical Genetics/ Association for Molecular Pathology (ACMG/AMP) classification. The unaffected parents were found to be heterozygous for this mutation. Our findings expand the mutation spectrum of WDR62 gene-related phenotype.
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