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Article

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Scientific reports - 1 Jul 2015

Kessler Kristin, Wunderlich Ina, Uebe Steffen, Falk Nathalie S, Gießl Andreas, Brandstätter Johann Helmut, Popp Bernt, Klinger Patricia, Ekici Arif B, Sticht Heinrich, Dörr Helmuth-Günther, Reis André, Roepman Ronald, Seemanová Eva, Thiel Christian T

Abstract excerpt

Skeletal ciliopathies are a heterogeneous group of autosomal recessive osteochondrodysplasias caused by defects in formation, maintenance and function of the primary cilium. Mutations in the underlying genes affect the molecular motors, intraflagellar transport complexes (IFT), or the basal body. The more severe phenotypes are caused by defects of genes of the dynein-2 complex, where mutations in DYNC2H1, WDR34...

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Identifiers

PMID: 26130459
DOI: 10.1038/srep11649
PMCID: PMC4486972

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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

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.PMID 26130459Read ↗

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathiesSemantic proximity Read ↗

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.Semantic proximity Read ↗

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.Semantic proximity Read ↗

Ciliary Dyneins and Dynein Related CiliopathiesSemantic proximity Read ↗

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

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.Semantic proximity Read ↗

DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.Semantic proximity Read ↗

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.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 ↗

Cytoplasmic dynein-2 at a glanceSemantic proximity Read ↗

Ciliary disorder of the skeletonSemantic proximity Read ↗

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Semantic proximity Read ↗

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