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Article

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.

Journal of pediatric urology - 1 Oct 2011

Al Badr Wisam, Al Bader Suha, Otto Edgar, Hildebrandt Friedhelm, Ackley Todd, Peng Weiping, Xu Jishu, Li Jun, Owens Kailey M, Bloom David, Innis Jeffrey W

Abstract excerpt

We describe a child of Middle Eastern descent by first-cousin coupling with idiopathic neurogenic bladder and high-grade vesicoureteral reflux at 1 year of age, whose characteristic facial grimace led to the diagnosis of Ochoa (urofacial) syndrome at age 5 years. We used homozygosity mapping, exome capture and paired-end sequencing to identify the disease causing mutation in the proband. We reviewed the...

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Identifiers

PMID: 21450525
DOI: 10.1016/j.jpurol.2011.02.034
PMCID: PMC3157539

Genes

HPSE2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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