Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

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Abstrakt

Tytuł:: Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Autorzy:: Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Aydin H; Center of Genetics Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Karaman A; Center of Genetics Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Źródło:: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2132-7. Date of Electronic Publication: 2015 Apr 06.
Typ publikacji:: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Język:: English
Imprint Name(s):: Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
MeSH Terms:: Exome/*genetics
Genetic Predisposition to Disease/*genetics
Membrane Proteins/*genetics
Mutation/*genetics
Orofaciodigital Syndromes/*genetics
Abnormalities, Multiple/genetics ; Cerebellar Diseases/genetics ; Cerebellum/abnormalities ; Child ; Cleft Palate/genetics ; Eye Abnormalities/genetics ; Female ; Hamartoma/genetics ; Homozygote ; Humans ; Kidney Diseases, Cystic/genetics ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Phenotype ; Retina/abnormalities ; Turkey
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Grant Information:: U54 HG006542 United States HG NHGRI NIH HHS; U54HG006542 United States HG NHGRI NIH HHS
Contributed Indexing:: Keywords: C5orf42; ciliopathy; oral-facial-digital syndrome type VI
Substance Nomenclature:: 0 (CPLANE1 protein, human)
0 (Membrane Proteins)
SCR Disease Name:: Agenesis of Cerebellar Vermis; Orofaciodigital syndrome 6
Entry Date(s):: Date Created: 20150408 Date Completed: 20160519 Latest Revision: 20200930
Update Code:: 20240104
PubMed Central ID:: PMC4545386
DOI:: 10.1002/ajmg.a.37092
PMID:: 25846457
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Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip/palate, and renal anomalies. Recently, novel mutations in C5orf42 were identified in 9 out of 11 OFDVI families. In a subsequent study C5orf42 was found to be mutated in only 2 out of 17 OFDVI probands while 28 patients with a pure JS phenotype also had pathogenic mutations of C5orf42. We report on two affected cousins diagnosed with OFDVI who were born from first degree cousin marriages. Whole exome sequencing (WES) identified a homozygous predicted damaging missense mutation (c.4034A > G; p.Gln1345Arg) in the C5orf42 gene. Our data contribute to the evidence that C5orf42 is one of the causative genes for OFDVI.
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