Publication:
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

dc.contributor.authorAlanay, Yasemin
dc.contributor.authorErgüner, Bekir
dc.contributor.authorUtine, Eda
dc.contributor.authorHacariz, Orcun
dc.contributor.authorKiper, Pelin Ozlem Simsek
dc.contributor.authorTaskiran, Ekim Zihni
dc.contributor.authorPercin, Ferda
dc.contributor.authorUz, Elif
dc.contributor.authorSagiroglu, Mahmut Samil
dc.contributor.authorYuksel, Bayram
dc.contributor.authorBoduroglu, Koray
dc.contributor.authorAkarsu, Nurten Ayse
dc.contributor.buuauthorUZ YILDIRIM, ELİF
dc.contributor.departmentFen Edebiyat Fakültesi
dc.contributor.departmentMoleküler Biyoloji ve Genetik Bölümü
dc.contributor.researcheridEAD-2022-2022
dc.date.accessioned2024-08-15T08:23:43Z
dc.date.available2024-08-15T08:23:43Z
dc.date.issued2014-02-01
dc.description.abstractCerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. The underlying genetic defect remains unknown. Using combination of homozygosity mapping and whole-exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in the human transmembrane and coiled-coil domains protein 1 (TMCO1) in four out of five families of Turkish origin. The entire critical region on chromosome 1q24 containing TMCO1 was excluded in the fifth family with characteristic findings of CFT providing evidence for genetic heterogeneity of CFT spectrum. Another founder TMCO1 mutation has recently been reported to cause a unique genetic condition, TMCO1-defect syndrome (OMIM #614132). TMCO1-defect syndrome shares many features with CFT. This study supports the fact that TMCO1-defect syndrome, initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum. (c) 2013 Wiley Periodicals, Inc.
dc.description.sponsorshipE-RARE network CRANIRARE consortium R07197KS
dc.description.sponsorshipTurkiye Cumhuriyeti Kalkinma Bakanligi TR51/11/YEN/0119 2011K120020
dc.identifier.doi10.1002/ajmg.a.36248
dc.identifier.endpage304
dc.identifier.issn1552-4825
dc.identifier.issue2
dc.identifier.startpage291
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.36248
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36248
dc.identifier.urihttps://hdl.handle.net/11452/44048
dc.identifier.volume164
dc.identifier.wos000331067100002
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherWiley
dc.relation.journalAmerican Journal of Medical Genetics Part A
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.relation.tubitak108S420
dc.relation.tubitakK030-T439
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectFacio-thoracic dysplasia
dc.subjectSequencing data
dc.subjectCerebrofaciothoracic dysplasia
dc.subjectTMCO1-defect
dc.subjectTMCO1
dc.subjectWhole exome-sequencing
dc.subjectGenetics & heredity
dc.titleTMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentFen Edebiyat Fakültesi/Moleküler Biyoloji ve Genetik Bölümü
relation.isAuthorOfPublication38963aa5-d044-4e20-a014-dbcd664b2e5b
relation.isAuthorOfPublication.latestForDiscovery38963aa5-d044-4e20-a014-dbcd664b2e5b

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