Novel Insertion Mutation in the PLA2G6 Gene in an Iranian Family with Infantile Neuroaxonal Dystrophy

Overview

Journal J Clin Lab Anal

Publisher Wiley

Specialties Biomedical Engineering
Biotechnology
Pathology

Date 2022 Jan 29

PMID 35092705

Authors

Dorsa Rostampour

Mohammad Reza Zolfaghari

Milad Gholami

Affiliations

Soon will be listed here.

Abstract

Background: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene, encoding phospholipase A2, are recognized to be the fundamental reason for infantile neuroaxonal dystrophy. This study aimed to detect pathogenic variant in a consanguine Iranian family with infantile neuroaxonal dystrophy.

Methods: The mutation screening was done by whole exome sequencing followed by direct Sanger sequencing.

Results: We identified a homozygous insertion mutation, NM_003560: c.1548_1549insCG (p.G517Rfs*29) in exon 10 of PLA2G6 in the patient. The parents were heterozygous for variant.

Conclusions: Because of the clinical heterogeneity and rarity of infantile neuroaxonal dystrophy, whole exome sequencing is critical to confirm the diagnosis and is an excellent tool for INAD management.

Citing Articles

A rare inherited homozygous missense variant in influences susceptibility to infantile neuroaxonal dystrophy: a case report.

Lyu Y, Wang T, Lin M, Qi F Transl Pediatr. 2024; 13(3):484-491.

PMID: 38590380 PMC: 10998992. DOI: 10.21037/tp-23-568.

Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.

Rostampour D, Zolfaghari M, Gholami M J Clin Lab Anal. 2022; 36(3):e24253.

PMID: 35092705 PMC: 8906051. DOI: 10.1002/jcla.24253.

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