title: Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
abstract: OBJECTIVE
  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.
authors.affiliation: The Michaelson Institute for Rehabilitation of Low Vision, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Ada
authors.initials: A
authors.lastname: Rosenmann
authors.forename: Idit
authors.initials: I
authors.lastname: Bejarano-Achache
authors.forename: Dalia
authors.initials: D
authors.lastname: Eli
authors.forename: Genia
authors.initials: G
authors.lastname: Maftsir
authors.forename: Liliana
authors.initials: L
authors.lastname: Mizrahi-Meissonnier
authors.forename: Anat
authors.initials: A
authors.lastname: Blumenfeld
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics; D015331:Cohort Studies; D005190:Family; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007557:Israel; D026901:Membrane Transport Proteins / Q000032:analysis / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods; D014442:Monophenol Monooxygenase / Q000032:analysis / Q000235:genetics; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase