TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
نویسندگان
چکیده
Supplementary Fig. 1. Segregation analysis in TCTEX1D2 families. Pedigree and segregation analysis in (a) family UCL82 and (b) INS, both consistent with autosomal recessive inheritance. (c) family UCL4 and (d) genomic PCRs in UCL4 of TCTEX1D2 exon 1 and exon 2 (affected by the deletion) plus exon 4 (not affected by the deletion). Children carrying the homozygous exon 1-2 TCTEX1D2 deletion are marked in black (diagnosed with JATD) or grey (two siblings who were not diagnosed with JATD. The strikethrough indicates death at 2 months of age, double line indicates consanguineous marriage. See also main article Figure 1. M, DNA ladder marker.
منابع مشابه
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans...
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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 ...
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Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormalities and are frequently associated with polydactyly and multiorgan system involvement. SRPS are produced by mutations in genes that participate in the formation and function of primary cilia and usually res...
متن کاملExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
BACKGROUND Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large ...
متن کاملIntraflagellar transport at a glance.
Intraflagellar transport (IFT) is the bidirectional transport of multisubunit protein complexes, called IFT particles, along axonemal microtubules (MTs) beneath the ciliary membrane. IFT plays essential roles in the assembly and function of cilia and flagella by contributing to cell motility, sensory perception and ciliumbased signaling (Rosenbaum and Witman, 2002; Scholey, 2003). IFT was first...
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عنوان ژورنال:
دوره 6 شماره
صفحات -
تاریخ انتشار 2015