The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Abstract Background Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephalus cases; however, causal mutations identified unt...

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Bibliographic Details
Main Authors: Masoud Sabzeghabaiean, Mohsen Maleknia, Javad Mohammadi-Asl, Hashem Kazemi, Fereshteh Golab, Zohreh Zargar, Maryam Naseroleslami
Format: Article
Language:English
Published: SpringerOpen 2024-03-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Hydrocephalus
Whole-exome sequencing
POMGNT1
Nonsense variant
Online Access:https://doi.org/10.1186/s43042-024-00513-6

Internet

https://doi.org/10.1186/s43042-024-00513-6

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