Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome
Küçük Resim Yok
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
WILEY
Erişim Hakkı
info:eu-repo/semantics/openAccess
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 frameshift (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. (C) 2014 Wiley Periodicals, Inc.
Açıklama
Anahtar Kelimeler
GAPO syndrome, ANTXR1, whole exome sequencing
Kaynak
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
164
Sayı
9