C5orf42 is the major gene responsible for OFD syndrome type VI.

doi:10.1007/s00439-013-1385-1

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Article

C5orf42 is the major gene responsible for OFD syndrome type VI.

Human genetics - 1 Mar 2014

Lopez Estelle, Thauvin-Robinet Christel, Reversade Bruno, Khartoufi Nadia El, Devisme Louise, Holder Muriel, Ansart-Franquet Hélène, Avila Magali, Lacombe Didier, Kleinfinger Pascale, Kaori Irahara, Takanashi Jun-Ichi, Le Merrer Martine, Martinovic Jelena, Noël Catherine, Shboul Mohammad, Ho Lena, Güven Yeliz, Razavi Ferechté, Burglen Lydie, Gigot Nadège, Darmency-Stamboul Véronique, Thevenon Julien, Aral Bernard, Kayserili Hülya, Huet Frédéric, Lyonnet Stanislas, Le Caignec Cédric, Franco Brunella, Rivière Jean-Baptiste, Faivre Laurence, Attié-Bitach Tania

Abstract excerpt

Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the "Joubert syndrome related disorders". Its genetic...

Topics

Abnormalities, Multiple
Adolescent
Adult
Alleles
Cerebellar Diseases
Cerebellum
Child
Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exome

Eye Abnormalities

Female

Hamartoma

Humans

Hypothalamic Diseases

Kidney Diseases, Cystic

Male

Membrane Proteins

Mutation

Source

Open in PubMed

Identifiers

PMID: 24178751
DOI: 10.1007/s00439-013-1385-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24178751-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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