twenty novel mutations in bckdha, bckdhb and dbt genes in a cohort of 52 saudi arabian patients with maple syrup urine disease

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ID: 158295
2017
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Ranked #44 of 57 articles by views in advances in skin & wound care

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Abstract
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the BCKHDA, BCKDHB and DBT genes. There were no mutations found in the DLD gene in this cohort of patients. Prediction effects, conservation and modelling of novel mutations demonstrated that all were predicted to be disease-causing. All mutations presented in a homozygous form and we did not detect the presence of a “founder” mutation in any of three genes. In addition, prenatal molecular genetic testing was successfully carried out on chorionic villus samples or amniocenteses in 10 expectant mothers with affected children with MSUD, molecularly characterized by this study.
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imtiaz2017moleculartwenty Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Faiqa Imtiaz;Abeer Al-Mostafa;Rabab Allam;Khushnooda Ramzan;Nada Al-Tassan;Asma I. Tahir;Nouf S. Al-Numair;Mohamed H. Al-Hamed;Zuhair Al-Hassnan;Mohammad Al-Owain;Hamad Al-Zaidan;Mohammad Al-Amoudi;Alya Qari;Ameera Balobaid;Moeenaldeen Al-Sayed
Journal advances in skin & wound care
Year 2017
DOI
10.1016/j.ymgmr.2017.03.006
URL
http://www.sciencedirect.com/science/article/pii/S2214426917300150
Keywords
medicine (general)biology (general)

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