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    Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

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    Authors
    Bruel, Ange-Line
    Eguether, Thibaut
    Pazour, Gregory J.
    Thauvin-Robinet, Christel
    UMass Chan Affiliations
    Program in Molecular Medicine
    Document Type
    Journal Article
    Publication Date
    2017-06-01
    Keywords
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Genetics
    Medical Genetics
    
    Metadata
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    Link to Full Text
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557276/
    Abstract
    Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.
    Source
    J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. Link to article on publisher's site
    DOI
    10.1136/jmedgenet-2016-104436
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/40305
    PubMed ID
    28289185
    Notes

    Full list of authors omitted for brevity. For full list see article.

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    Link to Article in PubMed

    ae974a485f413a2113503eed53cd6c53
    10.1136/jmedgenet-2016-104436
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