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Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families
Author(s) -
Rosenmann Ada,
BejaranoAchache Idit,
Eli Dalia,
Maftsir Genia,
MizrahiMeissonnier Liliana,
Blumenfeld Anat
Publication year - 2009
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2317
Subject(s) - albinism , genetic counseling , oculocutaneous albinism , pregnancy , prenatal diagnosis , offspring , medicine , genetic testing , cohort , obstetrics , pediatrics , genetics , fetus , biology , pathology
Objectives To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Methods Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. Results A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase ( TYR ) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Conclusions Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism. Copyright © 2009 John Wiley & Sons, Ltd.