Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

Abstract Background Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of the phosphoesterase (DHH) protein superfamily that is involved in t...

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Bibliographic Details
Main Authors: Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh, Masoud Garshasbi
Format: Article
Language:English
Published: BMC 2022-04-01
Series:BMC Medical Genomics
Subjects:
PRUNE1
Neurodevelopmental disorder
NMIHBA
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12920-022-01228-6

Internet

https://doi.org/10.1186/s12920-022-01228-6

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