Refinement of the chromosome 16 locus for benign familial infantile convulsions

Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12‐q12, and 19q in various families. The aim of this study was t...

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Bibliographic Details
Published in:Clinical genetics 2005-06, Vol.67 (6), p.517-525
Main Authors: Callenbach, PMC, Van Den Boogerd, EH, De Coo, RFM, Ten Houten, R, Oosterwijk, JC, Hageman, G, Frants, RR, Brouwer, OF, Van Den Maagdenberg, AMJM
Format: Article
Language:English
Subjects:
benign familial infantile convulsions
Biological and medical sciences
chromosome 16p
Chromosome Mapping
Chromosomes, Human, Pair 16
Comparative studies
Epilepsy
Epilepsy, Benign Neonatal - genetics
Families & family life
Gene loci
General aspects. Genetic counseling
Genetic Linkage
Genetic Markers
Genetics
Genotype
Haplotypes
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
linkage analysis
Lod Score
Medical genetics
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Pedigree
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Description
Summary:Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12‐q12, and 19q in various families. The aim of this study was to identify the responsible locus in four unrelated Dutch families with BFIC. Two of the tested families had pure BFIC; in one family, affected individuals had BFIC followed by paroxysmal kinesigenic dyskinesias at later age, and in one family, BFIC was accompanied by later‐onset focal epilepsy in older generations. Linkage analysis was performed for the known loci on chromosomes 1q23, 2q24, 16p12‐q12, and 19q. The two families with pure BFIC were linked to chromosome 16p12‐q12. Using recombinants from these and other published families, the chromosome 16‐candidate gene region was reduced from 21.4 Mb (4.3 cm) to 2.7 Mb (0.0 cm). For the other two families, linkage to any of the known loci was unlikely. In conclusion, we confirm the linkage of pure BFIC to chromosome 16p12‐q12, with further refinement of the locus. Furthermore, the lack of involvement of the known loci in two of the families indicates further genetic heterogeneity for BFIC.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2005.00445.x