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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

Abstract：

:Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease (PH I and II, respectively). To determine the etiology of an as yet uncharacterized type of PH, we selected a cohort of 15 non-PH I/PH II patients from eight unrelated families with calcium oxalate nephrolithiasis for high-density SNP microarray analysis. We determined that mutations in an uncharacterized gene, DHDPSL, on chromosome 10 cause a third type of PH (PH III). To overcome the difficulties in data analysis attributed to a state of compound heterozygosity, we developed a strategy of "heterozygosity mapping"-a search for long heterozygous patterns unique to all patients in a given family and overlapping between families, followed by reconstruction of haplotypes. This approach enabled us to determine an allelic fragment shared by all patients of Ashkenazi Jewish descent and bearing a 3 bp deletion in DHDPSL. Overall, six mutations were detected: four missense mutations, one in-frame deletion, and one splice-site mutation. Our assumption is that DHDPSL is the gene encoding 4-hydroxy-2-oxoglutarate aldolase, catalyzing the final step in the metabolic pathway of hydroxyproline.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Belostotsky R,Seboun E,Idelson GH,Milliner DS,Becker-Cohen R,Rinat C,Monico CG,Feinstein S,Ben-Shalom E,Magen D,Weissman I,Charon C,Frishberg Y

doi

10.1016/j.ajhg.2010.07.023

subject

Has Abstract

pub_date

2010-09-10 00:00:00

pages

392-9

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(10)00380-0

journal_volume

87

pub_type

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