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Article

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

American journal of medical genetics. Part A - 1 May 2008

Kulkarni Shashikant, Nagarajan Prabakaran, Wall Jonathan, Donovan Diana J, Donell Robert L, Ligon Azra H, Venkatachalam Sundaresan, Quade Bradley J

Abstract excerpt

Herein we characterize an apparently balanced de novo translocation, t(X;15)(p22.2;q26.1)dn, in a female patient with scoliosis, hirsutism, learning problems, and developmental delay (DGAP025). Other clinical findings include a high-arched palate, 2-3 syndactyly of the toes, and mildly elevated serum testosterone. No known or predicted genes are disrupted by the Xp22.2 breakpoint. The 15q26.1 breakpoint disrupts...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 15

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Source

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Identifiers

PMID: 18386809
DOI: 10.1002/ajmg.a.32178
PMCID: PMC2834558

Genes

CHD2
CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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