Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
American Journal of Medical Genetics, Part A · Ocak 2014
YÖKSİS Kayıtları
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
American Journal of Medical Genetics Part A · 2014 SSCI
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Makale Bilgileri
DergiAmerican Journal of Medical Genetics, Part A
Yayın TarihiOcak 2014
Cilt / Sayfa164 · 2328-2334
Scopus ID2-s2.0-84905913476
Erişim🔓 Açık Erişim
Özet
GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype. While this genomic study was in progress mutations in ANTXR1 were reported to cause GAPO syndrome. In our study we performed whole exome sequencing (WES) for five affected individuals from three Turkish kindreds segregating the GAPO trait. Exome sequencing analysis identified three novel homozygous mutations including; one frame-shift (c.1220_1221insT; p.Ala408Cysfs*2), one splice site (c.411A>G; p.Gln137Gln), and one non-synonymous (c.1150G>A; p.Gly384Ser) mutation in the ANTXR1 gene. Our studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix. © 2014 Wiley Periodicals, Inc.
Yazarlar (16)
1
Yavuz Bayram
2
Davut Pehlivan
3
Ender Karaca
4
Tomasz Gambin
5
Shalini N. Jhangiani
6
Serkan Erdin
7
Claudia Gonzaga-Jauregui
8
Wojciech Wiszniewski
9
Donna Muzny
10
Nursel H. Elcioglu
11
M. S. Yildirim
12
Banu Bozkurt
ORCID: 0000-0002-9847-3521
13
A. Zamani
14
Eric Boerwinkle
15
Richard A. Gibbs
16
James R. Lupski
Anahtar Kelimeler
ANTXR1
GAPO syndrome
Whole exome sequencing
Kurumlar
Baylor College of Medicine
Houston United States
Marmara Üniversitesi
Istanbul Turkey
Massachusetts General Hospital
Boston United States
Necmettin Erbakan Üniversitesi
Meram Turkey
Selçuk Üniversitesi
Selçuklu Turkey
Texas Children's Hospital
Houston United States
University of Texas Health Science Center at Houston
Houston United States
Metrikler
22
Atıf
16
Yazar
3
Anahtar Kelime