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

doi:10.1016/j.ajhg.2013.10.003

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Article

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

American journal of human genetics - 7 Nov 2013

Schmidts Miriam, Vodopiutz Julia, Christou-Savina Sonia, Cortés Claudio R, McInerney-Leo Aideen M, Emes Richard D, Arts Heleen H, Tüysüz Beyhan, D'Silva Jason, Leo Paul J, Giles Tom C, Oud Machteld M, Harris Jessica A, Koopmans Marije, Marshall Mhairi, Elçioglu Nursel, Kuechler Alma, Bockenhauer Detlef, Moore Anthony T, Wilson Louise C, Janecke Andreas R, Hurles Matthew E, Emmet Warren, Gardiner Brooke, Streubel Berthold, Dopita Belinda, Zankl Andreas, Kayserili Hülya, Scambler Peter J, Brown Matthew A, Beales Philip L, Wicking Carol, Duncan Emma L, Mitchison Hannah M

Abstract excerpt

Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 motor complex that regulates ciliary retrograde protein transport contains a heavy chain dynein ATPase/motor subunit, DYNC2H1, along with other less well functionally...

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Identifiers

PMID: 24183451
DOI: 10.1016/j.ajhg.2013.10.003
PMCID: PMC3824113

Genes

DYNLL1

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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.PMID 24183451Read ↗

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

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

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.Semantic proximity Read ↗

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

Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.Semantic proximity Read ↗

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

Base editing derived models of human <i>WDR34</i> and <i>WDR60</i> disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportSemantic proximity Read ↗

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

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.Semantic proximity Read ↗

Ciliary disorder of the skeletonSemantic proximity Read ↗

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

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