Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.

The syndrome of benign familial neonatal convulsions (BFNC) is a rare autosomal dominant disorder characterized by unprovoked seizures in the first few weeks of life. One locus for BFNC has been mapped to chromosome 20 in several pedigrees, but we have excluded linkage to chromosome 20 in one large kindred. In order to identify this novel BFNC locus, dinucleotide repeat markers distributed throughout the genome were used to screen this family. Maximum pairwise LOD scores of 4.43 were obtained with markers D8S284 and D8S256 on chromosome 8q. Multipoint analysis placed the BFNC locus in the interval spanned by D8S198-D8S274. This study establishes the presence of a new BFNC locus and confirms genetic heterogeneity of this disorder.

[1]  G. Gyapay,et al.  A second-generation linkage map of the human genome , 1992, Nature.

[2]  M. Polymeropoulos,et al.  Dinucleotide repeat polymorphism at the human c-myc oncogene locus (MYC). , 1992, Human molecular genetics.

[3]  J. Weber,et al.  Mapping of human chromosome 5 microsatellite DNA polymorphisms. , 1991, Genomics.

[4]  M. Wiznitzer,et al.  Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity , 1991, Annals of neurology.

[5]  R. Gardiner Genes and epilepsy. , 1990, Journal of medical genetics.

[6]  H. Donis-Keller,et al.  Report of the committee on the genetic constitution of chromosome 8. , 1990, Cytogenetics and cell genetics.

[7]  G. Holmes,et al.  Benign Neonatal Seizures , 1990, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

[8]  M. Leppert,et al.  Benign familial neonatal convulsions linked to genetic markers on chromosome 20 , 1989, Nature.

[9]  J. Ott,et al.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. , 1985, American journal of human genetics.

[10]  J. Zonana,et al.  Familial neonatal and infantile seizures: an autosomal-dominant disorder. , 1984, American journal of medical genetics.

[11]  R. E. Kaplan,et al.  Benign familial neonatal-infantile seizures. , 1983, American journal of medical genetics.

[12]  W. Hauser,et al.  The risks of seizure disorders among relatives of patients with childhood onset epilepsy , 1982, Neurology.

[13]  W. Rutter,et al.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene. , 1981, Proceedings of the National Academy of Sciences of the United States of America.

[14]  T. Quattlebaum Benign familial convulsions in the neonatal period and early infancy. , 1979, The Journal of pediatrics.

[15]  J. Ott,et al.  A simple scheme for the analysis of HLA linkages in pedigrees , 1978, Annals of human genetics.

[16]  E. Southern Detection of specific sequences among DNA fragments separated by gel electrophoresis. , 1975, Journal of molecular biology.

[17]  C. Carter Mendelian Inheritance in Man , 1967 .

[18]  H. Donis-Keller,et al.  A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group. , 1992, Science.

[19]  M. Shevell,et al.  Benign familial neonatal seizures: clinical and electroencephalographic characteristics. , 1986, Pediatric neurology.

[20]  M. Koivikko,et al.  [Benign familial neonatal convulsions]. , 1981, Duodecim; laaketieteellinen aikakauskirja.

[21]  J. A. Tibbles Dominant benign neonatal seizures. , 1980, Developmental medicine and child neurology.