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Article

[Genetic and phenotypic analysis of three children with Neurodevelopmental disorders due to variants of DEAF1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2026

Geng Chao, Shangguan Shaofang, Chen Xiaoli, Wang Lin, Xie Hua

Abstract excerpt

OBJECTIVE: To explore the genetic characteristics and clinical phenotypes of three children with novel DEAF1 gene variants. METHODS: Three children who were referred to Capital Children's Medical Center Affiliated to Capital Medical University between January 2018 and December 2025 were selected as study subjects and underwent whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing,...

Read the complete abstract on PubMed

Topics

Humans
Male
Female
Child
Phenotype
Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Nuclear Proteins

Transcription Factors

Child, Preschool

Mutation

DNA-Binding Proteins

Exome Sequencing

HEK293 Cells

Base Sequence

HeLa Cells

Source

Identifiers

PMID: 42711128
DOI: 10.3760/cma.j.cn511374-20260303-00093

Genes

DEAF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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