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Article

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

American journal of human genetics - 1 May 2009

Dagoneau Nathalie, Goulet Marie, Geneviève David, Sznajer Yves, Martinovic Jelena, Smithson Sarah, Huber Céline, Baujat Geneviève, Flori Elisabeth, Tecco Laura, Cavalcanti Denise, Delezoide Anne-Lise, Serre Valérie, Le Merrer Martine, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Jeune asphyxiating thoracic dystrophy (ATD) is an autosomal-recessive chondrodysplasia characterized by short ribs and a narrow thorax, short long bones, inconstant polydactyly, and trident acetabular roof. ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenatal expression and lethality and variable malformations. We first...

Topics

Carrier Proteins
Chromosomes, Human, Pair 11
Cytoplasmic Dyneins
Dyneins
Humans
Models, Molecular
Mutation
Pedigree
Respiratory Insufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Short Rib-Polydactyly Syndrome

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Identifiers

PMID: 19442771
DOI: 10.1016/j.ajhg.2009.04.016
PMCID: PMC2681009

Genes

IFT80

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19442771-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.PMID 19442771Read ↗

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.Semantic proximity Read ↗

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.Semantic proximity Read ↗

Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.Semantic proximity Read ↗

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.Semantic proximity Read ↗

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.Semantic proximity Read ↗

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Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.Semantic proximity Read ↗

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.Semantic proximity Read ↗

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