Premium
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs
Author(s) -
Shaheen R,
AlDirbashi OY,
AlHassnan ZN,
AlOwain M,
Makhsheed N,
Basheeri F,
Seidahmed MZ,
Salih MAM,
Faqih E,
Zaidan H,
AlSayed M,
Rahbeeni Z,
AlSheddi T,
Hashem M,
Kurdi W,
Shimozawa N,
Alkuraya FS
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01498.x
Subject(s) - phenotype , peroxisomal disorder , biology , complementation , genetics , allele , genotype , genetic heterogeneity , peroxisome , population , zellweger syndrome , gene , medicine , environmental health
Shaheen R, Al‐Dirbashi OY, Al‐Hassnan ZN, Al‐Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MAM, Faqih E, Zaidan H, Al‐Sayed M, Rahbeeni Z, Al‐Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Peroxisomes are single membrane‐bound cellular organelles that carry out critical metabolic reactions perturbation of which leads to an array of clinical phenotypes known as peroxisomal disorders (PD). In this study, the largest of its kind in the Middle East, we sought to comprehensively characterize these rare disorders at the clinical, biochemical and molecular levels. Over a 2‐year period, we have enrolled 17 patients representing 16 Arab families. Zellweger‐spectrum phenotype was observed in 12 patients and the remaining 5 had the rhizomelic chondrodysplasia punctata phenotype. We show that homozygosity mapping is a cost‐effective strategy that enabled the identification of the underlying genetic defect in 100% of the cases. The pathogenic nature of the mutations identified was confirmed by immunofluorescence and complementation assays. We confirm the genetic heterogeneity of PD in our population, expand the pool of pathogenic alleles and draw some phenotype/genotype correlations.