title: Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE).
abstract: Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN(1 ) and CLN(2), respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutation(s) have been identified. Molecular testing with allele-specific primer extension and DNA sequencing was performed in nine pregnancies, four from two NCL1 families and five from five NCL2 families. Lysosomal enzyme activity assays were carried out as well.Four fetuses from three pregnancies in NCL1 families were found to be carriers for a mutation 451C-T in the CLN(1) gene and one was normal. Prenatal testing of three NCL2 families who carried mutation R208X in the CLN(2) gene showed that all fetuses were carriers. In NCL2 families who carried either mutation IVS5-1C or/and IVS5-1A two normal pregnancies were detected. Our studies indicate that DNA testing, which may provide definitive prenatal diagnosis for NCL, may be used in combination with lysosomal enzyme activity analyses.
authors.affiliation: Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA. lbrsclmndl@aol.com
authors.forename: Nanbert
authors.initials: N
authors.lastname: Zhong
authors.forename: Weina
authors.initials: W
authors.lastname: Ju
authors.forename: Dorota
authors.initials: D
authors.lastname: Moroziewicz
authors.forename: Anetta
authors.initials: A
authors.lastname: Wronska
authors.forename: Marilyn
authors.initials: M
authors.lastname: Li
authors.forename: Krystyna
authors.initials: K
authors.lastname: Wisniewski
authors.forename: Susan Sklower
authors.initials: SS
authors.lastname: Brooks
authors.forename: Edmund
authors.initials: E
authors.lastname: Jenkins
authors.forename: W Ted
authors.initials: WT
authors.lastname: Brown
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis