Conflict of Interest: J.R.L. has stock ownership in 23 and Me and Ion Torrent Systems, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis (CMA) and clinical exome sequencing offered in the Medical Genetics Laboratory (MGL; http://www.bcm.edu/geneticlabs/). Other authors have no disclosures relevant to the manuscript.
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
Article first published online: 14 JUL 2014
© 2014 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 164, Issue 9, pages 2328–2334, September 2014
How to Cite
2014. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet Part A 164A:2328–2334., , , , , , , , , , , , , , , , .
- Issue published online: 13 AUG 2014
- Article first published online: 14 JUL 2014
- Manuscript Accepted: 11 JUN 2014
- Manuscript Received: 2 MAR 2014
- United States National Human Genome Research Institute/National Heart Blood and Lung Institute. Grant Number: U54HG006542
- GAPO syndrome;
- whole exome sequencing
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.