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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F23%3AE0110410" target="_blank" >RIV/00843989:_____/23:E0110410 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/23:10478505 RIV/00064165:_____/23:10478505

  • Result on the web

    <a href="https://academic.oup.com/hmg/article-abstract/32/18/2822/7210301?redirectedFrom=fulltext&login=true" target="_blank" >https://academic.oup.com/hmg/article-abstract/32/18/2822/7210301?redirectedFrom=fulltext&login=true</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1093/hmg/ddad109" target="_blank" >10.1093/hmg/ddad109</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

  • Original language description

    Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over 20 genes encoding ciliary proteins have been found to cause OFDS through deleterious structural or functional impacts on primary cilia. We identified by exome sequencing bi-allelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families. Affected individuals presented a novel form of OFDS (OFDS-RAB34) accompanied by cardiac, cerebral, skeletal and anorectal defects. RAB34 encodes a member of the Rab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Unlike many genes required for cilium assembly, RAB34 acts selectively in cell types that use the intracellular ciliogenesis pathway, in which nascent cilia begin to form in the cytoplasm. We find that the protein products of these pathogenic variants, which are clustered near the RAB34 C-terminus, exhibit a strong loss of function. Although some variants retain the ability to be recruited to the mother centriole, cells expressing mutant RAB34 exhibit a significant defect in cilium assembly. While many Rab proteins have been previously linked to ciliogenesis, our studies establish RAB34 as the first small GTPase involved in OFDS and reveal the distinct clinical manifestations caused by impairment of intracellular ciliogenesis.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10603 - Genetics and heredity (medical genetics to be 3)

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2023

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Human molecular genetics

  • ISSN

    0964-6906

  • e-ISSN

    1460-2083

  • Volume of the periodical

    32

  • Issue of the periodical within the volume

    18

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    10

  • Pages from-to

    2822-2831

  • UT code for WoS article

    001167730000003

  • EID of the result in the Scopus database

    2-s2.0-85168683501