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

Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, Nursel H. Elcioglu, M. Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


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.

Original languageEnglish
Pages (from-to)2328-2334
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
StatePublished - Sep 2014
Externally publishedYes


  • ANTXR1
  • GAPO syndrome
  • Whole exome sequencing


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