Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

doi:10.1186/s12920-025-02155-y

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Article

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

BMC medical genomics - 19 May 2025

Ji Xiaoshan, Xu Qiong, Lu Yulan, Liu Bo, Xiao Feifan, Ni Qi, Xu Suzhen, Liu Renchao, Li Gang, Wu Bingbing, Zhou Shuizhen, Wang Huijun

Abstract excerpt

BACKGROUND: Chromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation spectrum of 17p13.3 microdeletions ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome, while 17p13.3 microduplications result in autism, learning disabilities, microcephaly and other brain malformations. This study aims to provide a more comprehensive...

Read the complete abstract on PubMed

Topics

Humans
Chromosomes, Human, Pair 17
High-Throughput Nucleotide Sequencing
Male
Female
Child

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

DNA Copy Number Variations

Child, Preschool

Infant

Adolescent

Retrospective Studies

Polymorphism, Single Nucleotide

Chromosome Deletion

1-Alkyl-2-acetylglycerophosphocholine Esterase

Phenotype

Microtubule-Associated Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40390087
DOI: 10.1186/s12920-025-02155-y
PMCID: PMC12090631

Genes

CRK
HIC1
PRPF8
RTN4RL1
YWHAE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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