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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
Journal of Pediatric Urology, Volume 7, No. 5, Year 2011
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Description
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. © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Authors & Co-Authors
Al-Badr, Wisam H.A.
Saudi Arabia, Dammam
Imam Abdulrahman Bin Faisal University
Al Bader, Suha
South Africa
King Fahad Specialist Hospital Dammam
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Hildebrandt, Friedhelm
United States, Ann Arbor
University of Michigan, Ann Arbor
Ackley, Todd
United States, Ann Arbor
University of Michigan, Ann Arbor
Peng, Weiping
United States, Ann Arbor
University of Michigan, Ann Arbor
Xu, Jishu
United States, Ann Arbor
University of Michigan, Ann Arbor
Li, Jun Z.
United States, Ann Arbor
University of Michigan, Ann Arbor
Owens, Kailey M.
United States, Ann Arbor
University of Michigan, Ann Arbor
Bloom, David
United States, Ann Arbor
University of Michigan, Ann Arbor
Innis, Jeffrey W.
United States, Ann Arbor
University of Michigan, Ann Arbor
Statistics
Citations: 24
Authors: 11
Affiliations: 3
Identifiers
Doi:
10.1016/j.jpurol.2011.02.034
ISSN:
14775131
e-ISSN:
18734898
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Randomised Control Trial