E-mail ID : info@iamg.in
 
 
 
 

Online Submission
Click Here For Online Submission
Instructions for authors

Genetic Clinics
Editorial board

Get Our Newsletter
Subscribe

Send Your Feedback
Feedback Form

About Us
IAMG

Abstract

April - June 2021 | Vol. 14 | Issue 2 | 05-07
Truncation Variation in the Protocadherin 19 PCDH19 Gene Exhibiting Mosaicism in a Manifesting Heterozygous Male
Ikrormi Rungsung, Aneek Das Bhowmik, Ashwin Dalal
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India
Address for Correspondence Email: adalal@cdfd.org.in
 
Abstract
Epilepsy and intellectual disability limited to females (EFMR)/ early infantile epileptic encephalopathy-9 (EIEE9) is an unusual X-linked disorder in which obligate male carriers are not affected and females show severe epilepsy with cognitive impairment. In the present study, a male child who presented with cortical dysplasia, gray matter heterotopias and seizures at two months of age was evaluated using clinical exome sequencing. Clinical exome analysis revealed a mosaic truncation variant NM_020766.2: c.462 C>G in exon 1 of the protocadherin 19 gene (PCDH19). This variant was further confirmed by Sanger sequencing, which revealed mosaicism in peripheral blood as well as saliva DNA in the proband. This variant was not detected in the Sanger sequencing of the parents. The PCDH19 gene located at the chromosome Xq22.1 locus, encodes for protocadherin delta-2 protein with 1148 amino acids and is involved in calcium dependent cell-cell adhesion. The present result can be explained using cellular interference as the disease mechanism and is well supported by previous research studies.
 
HTML Full Text  Download PDF