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Article

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

American journal of human genetics - 7 Nov 2013

Huber Céline, Wu Sulin, Kim Ashley S, Sigaudy Sabine, Sarukhanov Anna, Serre Valérie, Baujat Genevieve, Le Quan Sang Kim-Hanh, Rimoin David L, Cohn Daniel H, Munnich Arnold, Krakow Deborah, Cormier-Daire Valérie

Abstract excerpt

Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, mutations in two genes, IFT80 and DYNC2H1, have been identified as being responsible for SRP type III. Via homozygosity...

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Identifiers

PMID: 24183449
DOI: 10.1016/j.ajhg.2013.10.007
PMCID: PMC3824112

Genes

IFT80
TLR3
TLR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.PMID 24183449Read ↗

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read ↗

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Semantic proximity Read ↗

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Semantic proximity Read ↗

Ciliary disorder of the skeletonSemantic proximity Read ↗

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.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 ↗

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.Semantic proximity Read ↗

Compound Heterozygous Splicing Variants In KIAA0586 Cause Fetal Short-Rib Thoracic Dysplasia And Cerebellar Malformation: The Use of Whole Exome Sequencing In Prenatal DiagnosisSemantic proximity Read ↗

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2Semantic proximity Read ↗

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.Semantic proximity Read ↗

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.Semantic proximity Read ↗

Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome.Semantic proximity Read ↗

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