TY - JOUR
T1 - Identification of mutations underlying 20 inborn errors of metabolism in the united arab emirates population
AU - Ben-Rebeh, Imen
AU - Hertecant, Jozef L.
AU - Al-Jasmi, Fatma A.
AU - Aburawi, Hanan E.
AU - Al-Yahyaee, Said A.
AU - Al-Gazali, Lihadh
AU - Ali, Bassam R.
N1 - Funding Information:
The authors are grateful for the help in the EXAFS measurement from Dr. S. Zhang and Prof. Y. Huang at Shanghai Synchrotron Radiation Facility. This work is financially supported by the National Natural Science Foundation of China (21273264, 21273263, 21227002, 21573270, U1510104), Natural Science Foundation of Shanxi Province of China (2013021007-3, 2015021003), and the CAS-SAFEA International Partnership Program for Creative Research Teams.
PY - 2012/5/1
Y1 - 2012/5/1
N2 - Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United Arab Emirates (UAE). However, the mutations underlying a large number of these disorders have not yet been determined. Therefore, the objective of this study was to identify the mutations underlying a number of IEM disorders among UAE residents from both national and expatriate families. A case series of patients from 34 families attending the metabolic clinic at Tawam Hospital were clinically evaluated, and molecular testing was carried out to determine their causative mutations. The mutation analysis was carried out at molecular genetics diagnostic laboratories. Thirty-eight mutations have been identified as responsible for twenty IEM disorders, including in the metabolism of amino acids, lipids, steroids, metal transport and mitochondrial energy metabolism, and lysosomal storage disorders. Nine of the identified mutations are novel, including two missense mutations, three premature stop codons and four splice site mutations. Mutation analysis of IEM disorders in the UAE population has an important impact on molecular diagnosis and genetic counseling for families affected by these disorders.
AB - Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United Arab Emirates (UAE). However, the mutations underlying a large number of these disorders have not yet been determined. Therefore, the objective of this study was to identify the mutations underlying a number of IEM disorders among UAE residents from both national and expatriate families. A case series of patients from 34 families attending the metabolic clinic at Tawam Hospital were clinically evaluated, and molecular testing was carried out to determine their causative mutations. The mutation analysis was carried out at molecular genetics diagnostic laboratories. Thirty-eight mutations have been identified as responsible for twenty IEM disorders, including in the metabolism of amino acids, lipids, steroids, metal transport and mitochondrial energy metabolism, and lysosomal storage disorders. Nine of the identified mutations are novel, including two missense mutations, three premature stop codons and four splice site mutations. Mutation analysis of IEM disorders in the UAE population has an important impact on molecular diagnosis and genetic counseling for families affected by these disorders.
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U2 - 10.1089/gtmb.2011.0175
DO - 10.1089/gtmb.2011.0175
M3 - Article
C2 - 22106832
AN - SCOPUS:84861486400
SN - 1945-0265
VL - 16
SP - 366
EP - 371
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
IS - 5
ER -