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@article{838834,
author = {Sokolová, Jitka and Janošíková, B. and Terwilliger, JD and Freiberger, Tomáš and Kraus, JP and Kožich, Viktor},
article_number = {6},
keywords = {homocystinuria; prevalence; mutation screening; cystathione beta-synthase; CBS; Czech; Slovak; ARMS-PCR},
language = {eng},
issn = {1059-7794},
journal = {Human Mutation},
title = {Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles},
volume = {18},
year = {2001}
}
TY - JOUR
ID - 838834
AU - Sokolová, Jitka - Janošíková, B. - Terwilliger, JD - Freiberger, Tomáš - Kraus, JP - Kožich, Viktor
PY - 2001
TI - Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
JF - Human Mutation
VL - 18
IS - 6
SN - 10597794
KW - homocystinuria
KW - prevalence
KW - mutation screening
KW - cystathione beta-synthase
KW - CBS
KW - Czech
KW - Slovak
KW - ARMS-PCR
N2 - Recent reports suggested that homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a more common inborn error of metabolism than originally thought. In this study we compared the prevalence of homocystinuric alleles ascertained by two different approaches. First, the incidence of homocystinuria estimated by selective biochemical screening in the Czech and Slovak Republics was 1:349,000 (95% CI 1:208,000-1:641,000). The two most common pathogenic mutant alleles found subsequently in these patients, IVS11-2A>C and c.833T>C, had a calculated population prevalence of 0.00042 (95% CI 0.00031-0.00055) and 0.00018 (95% CI 0.00013-0.00023), respectively. Second, to examine the possible negative detection bias of mildly affected patients we determined the prevalence of these two pathogenic mutations in a sample of 1284 unselected newborns. Indeed, the observed prevalence of the c.833T>C allele (0.00195, 95% CI 0.00063-0.00454) was 11x higher than in the previous group suggesting that many homozygotes for the c.833T>C had not been diagnosed by selective biochemical screening. The IVS11-2A>C allele was not detected among 2,568 newborn CBS alleles. The estimated incidence of homocystinuria of 1:83,000, calculated in a combined model, suggests that selective biochemical screening may ascertain only 25% of all homocystinuric patients. In conclusion, homocystinuria in Central Europe may be sufficiently common to consider sensitive newborn screening programs for this disease.
ER -
SOKOLOVÁ, Jitka, B. JANOŠÍKOVÁ, JD TERWILLIGER, Tomáš FREIBERGER, JP KRAUS a Viktor KOŽICH. Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. \textit{Human Mutation}. 2001, roč.~18, č.~6, 2 s. ISSN~1059-7794.
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