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

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.

• Authors: Dorsa Rostampour, Mohammad Reza Zolfaghari, Milad Gholami
• Journal: Journal of clinical laboratory analysis (J Clin Lab Anal) Vol. 36 Issue 3 Pg. e24253 (Mar 2022) ISSN: 1098-2825 [Electronic] United States
• PMID: 35092705 (Publication Type: Journal Article)
• Copyright: © 2022 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.

Chemical References

• Group VI Phospholipases A2
• PLA2G6 protein, human

Topics

• Group VI Phospholipases A2 (genetics)
• Homozygote
• Humans
• Iran
• Mutagenesis, Insertional
• Mutation (genetics)
• Neuroaxonal Dystrophies (genetics, pathology)