TY - JOUR
T1 - First contiguous gene deletion causing biotinidase deficiency
T2 - The enzyme deficiency in three Sri Lankan children
AU - Senanayake, Danika Nadeen
AU - Jasinge, Eresha A.
AU - Pindolia, Kirit
AU - Wanigasinghe, Jithangi
AU - Monaghan, Kristin
AU - Suchy, Sharon F.
AU - Wei, Sainan
AU - Jaysena, Subashini
AU - Wolf, Barry
N1 - Funding Information:
This work was supported by the Safra Research Fund, Henry Ford Hospital .
Publisher Copyright:
© 2015 Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.
PY - 2015/3
Y1 - 2015/3
N2 - We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98-104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening.
AB - We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98-104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening.
KW - Biotinidase
KW - Biotinidase deficiency
KW - Congenital myasthenic syndrome
KW - Contiguous gene deletion
KW - Enzyme deficiency
KW - Mutation
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U2 - 10.1016/j.ymgmr.2015.01.005
DO - 10.1016/j.ymgmr.2015.01.005
M3 - Article
C2 - 28649532
AN - SCOPUS:84923254850
SN - 2214-4269
VL - 2
SP - 81
EP - 84
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
ER -