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Article

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2024

Asif Maria, Khayyat Arwa Ishaq A, Alawbathani Salem, Abdullah Uzma, Sanner Anne, Georgomanolis Theodoros, Haasters Judith, Becker Kerstin, Budde Birgit, Becker Christian, Thiele Holger, Baig Shahid M, Isidoro-García María, Winter Dominic, Pogoda Hans-Martin, Muhammad Sajjad, Hammerschmidt Matthias, Kraft Florian, Kurth Ingo, Martin Hilario Gomez, Wagner Matias, Nürnberg Peter, Hussain Muhammad Sajid

Abstract excerpt

PURPOSE: Neurodevelopmental disorders exhibit clinical and genetic heterogeneity, ergo manifest dysfunction in components of diverse cellular pathways; the precise pathomechanism for the majority remains elusive. METHODS: We studied 5 affected individuals from 3 unrelated families manifesting global developmental delay, postnatal microcephaly, and hypotonia. We used exome sequencing and prioritized variants that...

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Autophagy
Exome Sequencing
Fibroblasts
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Function Mutation

Muscle Hypotonia

Neurodevelopmental Disorders

Source

Identifiers

PMID: 38641995
DOI: 10.1016/j.gim.2024.101143

Genes

ZFTRAF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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