Mutations in ANTXR1 cause GAPO syndrome.

doi:10.1016/j.ajhg.2013.03.023

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Article

Mutations in ANTXR1 cause GAPO syndrome.

American journal of human genetics - 2 May 2013

Stránecký Viktor, Hoischen Alexander, Hartmannová Hana, Zaki Maha S, Chaudhary Amit, Zudaire Enrique, Nosková Lenka, Barešová Veronika, Přistoupilová Anna, Hodaňová Kateřina, Sovová Jana, Hůlková Helena, Piherová Lenka, Hehir-Kwa Jayne Y, de Silva Deepthi, Senanayake Manouri P, Farrag Sameh, Zeman Jiří, Martásek Pavel, Baxová Alice, Afifi Hanan H, St Croix Brad, Brunner Han G, Temtamy Samia, Kmoch Stanislav

Abstract excerpt

The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [p.Arg88*] and c.505C>T [p.Arg169*]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs*119]) in ANTXR1, which encodes...

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Identifiers

PMID: 23602711
DOI: 10.1016/j.ajhg.2013.03.023
PMCID: PMC3644626

Genes

ANTXR1

Variants

Provenance

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