ArticleJournal of pediatric urology2011
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
Article in Journal of pediatric urology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Expanding theFrontiers in genetics · 2022Article
- Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.Journal of the American Society of Nephrology : JASN · 2017Article
- Evidence for pelvic organ prolapse predisposition genes on chromosomes 10 and 17.American journal of obstetrics and gynecology · 2015Article
- Urinary tract effects of HPSE2 mutations.Journal of the American Society of Nephrology : JASN · 2015Article
- A mouse model of urofacial syndrome with dysfunctional urination.Human molecular genetics · 2015Article
- Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.Human molecular genetics · 2014Article
- Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.Pediatric nephrology (Berlin, Germany) · 2014Review
- Genetics of human congenital urinary bladder disease.Pediatric nephrology (Berlin, Germany) · 2014Review
- Is there a role for endogenous retroviruses to mediate long-term adaptive phenotypic response upon environmental inputs?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2013Review
- Exome sequencing as a tool for Mendelian disease gene discovery.Nature reviews. Genetics · 2011Review
- The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.Einstein (Sao Paulo, Brazil)Article
- Lower urinary tract development and disease.Wiley interdisciplinary reviews. Systems biology and medicineReview
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
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 literature with respect to the urologic manifestations of Ochoa syndrome. A large region of marker homozygosity was observed at 10q24, consistent with known autosomal recessive inheritance, family consanguinity and previous genetic mapping in other families with Ochoa syndrome. A homozygous mutation was identified in the proband in HPSE2: c.1374_1378delTGTGC, a deletion of 5 nucleotides in exon 10 that is predicted to lead to a frameshift followed by replacement of 132 C-terminal amino acids with 153 novel amino acids (p.Ala458Alafsdel132ins153). This mutation is novel relative to very recently published mutations in HPSE2 in other families. Early intervention and recognition of Ochoa syndrome with control of risk factors and close surveillance will decrease complications and renal failure.
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