TY - JOUR
T1 - Canavan disease prenatal diagnosis and genetic counseling
AU - Matalon, Reuben
AU - Matalon, Kimberlee Michals
N1 - Funding Information:
This work was supported in part by John Sealy Research Development Grant and NIH Grant No. RO1 NS38562.
PY - 2002
Y1 - 2002
N2 - Canavan disease is a severe leukodystrophy more common among Ashkenazi Jews. The enzyme defect, apartoacylase, has been identified, and the gene cloned. Only two mutations account for over 98% of all Jewish alleles with Canavan disease. The carrier frequency among healthy Jews is 1:37-58. Carrier detection and prenatal diagnosis can be accurately carried out using molecular analysis. When mutations are unknown, analysis of amniotic fluid for NAA using stable isotope dilution technique can be used for prenatal diagnosis.
AB - Canavan disease is a severe leukodystrophy more common among Ashkenazi Jews. The enzyme defect, apartoacylase, has been identified, and the gene cloned. Only two mutations account for over 98% of all Jewish alleles with Canavan disease. The carrier frequency among healthy Jews is 1:37-58. Carrier detection and prenatal diagnosis can be accurately carried out using molecular analysis. When mutations are unknown, analysis of amniotic fluid for NAA using stable isotope dilution technique can be used for prenatal diagnosis.
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U2 - 10.1016/S0889-8545(01)00003-1
DO - 10.1016/S0889-8545(01)00003-1
M3 - Review article
C2 - 12108830
AN - SCOPUS:0035989779
SN - 0889-8545
VL - 29
SP - 297
EP - 304
JO - Obstetrics and gynecology clinics of North America
JF - Obstetrics and gynecology clinics of North America
IS - 2
ER -