Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

TitleWhole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Publication TypeJournal Article
Year of Publication2014
AuthorsBayram, Y, Pehlivan, D, Karaca, E, Gambin, T, Jhangiani, SN, Erdin, S, Gonzaga-Jauregui, C, Wiszniewski, W, Muzny, DM, Elcioglu, NH, M Yildirim, S, Bozkurt, B, Zamani, AGul, Boerwinkle, E, Gibbs, RA, Lupski, JR
Corporate AuthorsBaylor-Hopkins Center for Mendelian Genomics
JournalAm J Med Genet A
Date Published2014 Sep
KeywordsAdolescent, Adult, Alopecia, Anodontia, Base Sequence, Child, Chromosome Segregation, DNA Mutational Analysis, Exome, Facies, Family, Female, Growth Disorders, Humans, Male, Microfilament Proteins, Molecular Sequence Data, Mutation, Neoplasm Proteins, Optic Atrophies, Hereditary, Pedigree, Protein Structure, Tertiary, Receptors, Cell Surface

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.

Alternate JournalAm J Med Genet A
PubMed ID25045128
PubMed Central IDPMC4332576
Grant ListU54 HD083092 / HD / NICHD NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
U54HG006542 / HG / NHGRI NIH HHS / United States

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