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Article

Mutation of CANT1 causes Desbuquois dysplasia.

American journal of medical genetics. Part A - 1 May 2010

Faden Maha, Al-Zahrani Fatema, Arafah Dia, Alkuraya Fowzan S

Abstract excerpt

Desbuquois dysplasia is an autosomal recessive dysplasia characterized by severe growth restriction and distinct hand and proximal femur appearance in addition to cognitive impairment. The critical interval for this disease has been mapped to 17q25.3 using homozygosity mapping. We have identified a newborn with classical features of the disease whose parents are first cousins. Assuming genetic homogeneity of this...

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Source

Identifiers

PMID: 20425819
DOI: 10.1002/ajmg.a.33404

Genes

CANT1

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.

Related research

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Mutation of CANT1 causes Desbuquois dysplasia.PMID 20425819Read ↗

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<i>CANT1</i> mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantSemantic proximity Read ↗

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.Semantic proximity Read ↗

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.Semantic proximity Read ↗

Identification of CANT1 mutations in Desbuquois dysplasia.Semantic proximity Read ↗

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Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.Semantic proximity Read ↗

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.Semantic proximity Read ↗

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