TY - JOUR
T1 - Novel mutations cause biotinidase deficiency in Turkish children
AU - Pomponio, R. J.
AU - Coskun, T.
AU - Demirkol, M.
AU - Tokatli, A.
AU - Ozalp, I.
AU - Hüner, G.
AU - Baykal, T.
AU - Wolf, B.
N1 - Funding Information:
This work was funded in part by NIH grant HD 44258 to B.W. The authors thank Dr G. A. Buck, T. R. Reynolds and G. A. Meyers for assistance in automated sequencing at the Commonwealth Biotechnologies Institute in Richmond, Virginia.
PY - 2000
Y1 - 2000
N2 - Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:de17ins3 mutation is common in clinically ascertained children in both the United States and Turkish populations, but a unique common mutation, R79C, is found only in the Turkish children identified both clinically and by newborn screening. Another frequently occurring mutation, T532M, is only observed in the Turkish newborn screening group. There are four other less frequent novel mutations identified in the Turkish population. Interestingly, the Q456H and the A171T:D444H double mutation, which are the most common mutations found in the US newborn screening population and have not been observed in symptomatic children, do occur in clinically ascertained children in the Turkish population, although the double mutation may be associated with milder and/or later-onset symptoms.
AB - Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:de17ins3 mutation is common in clinically ascertained children in both the United States and Turkish populations, but a unique common mutation, R79C, is found only in the Turkish children identified both clinically and by newborn screening. Another frequently occurring mutation, T532M, is only observed in the Turkish newborn screening group. There are four other less frequent novel mutations identified in the Turkish population. Interestingly, the Q456H and the A171T:D444H double mutation, which are the most common mutations found in the US newborn screening population and have not been observed in symptomatic children, do occur in clinically ascertained children in the Turkish population, although the double mutation may be associated with milder and/or later-onset symptoms.
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U2 - 10.1023/A:1005609614443
DO - 10.1023/A:1005609614443
M3 - Article
C2 - 10801053
AN - SCOPUS:0034116375
VL - 23
SP - 120
EP - 128
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 2
ER -