Novel mutations cause biotinidase deficiency in Turkish children

Pomponio R., Coskun T., Demirkol M., Tokatli A., Ozalp I., Huner G., ...More

JOURNAL OF INHERITED METABOLIC DISEASE, vol.23, no.2, pp.120-128, 2000 (SCI-Expanded) identifier


Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:del7ins3 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.