title: A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.
abstract: A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The human orthologous gene, MASS1, was mapped to chromosome 5q14, for which we previously have reported significant evidence of linkage to febrile seizures (FEB4). We screened for MASS1 mutations in individuals from 48 families with familial febrile seizures and found 25 DNA alterations. None of nine missense polymorphic alleles was significantly associated with febrile seizures; however, a nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. Our results suggest that a loss-of-function mutation in MASS1 might be responsible for the seizure phenotypes, though it is not likely that MASS1 contributed to the cause of febrile seizures in most of our families.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305-8575, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Nakayama
authors.forename: Ying-Hui
authors.initials: YH
authors.lastname: Fu
authors.forename: Anna M
authors.initials: AM
authors.lastname: Clark
authors.forename: Satoko
authors.initials: S
authors.lastname: Nakahara
authors.forename: Kenzo
authors.initials: K
authors.lastname: Hamano
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Iwasaki
authors.forename: Akira
authors.initials: A
authors.lastname: Matsui
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
authors.forename: Louis J
authors.initials: LJ
authors.lastname: Ptácek
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D043562:Receptors, G-Protein-Coupled; D012640:Seizures / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D043562:Receptors, G-Protein-Coupled; C417525:ADGRV1 protein, human; C485949:Adgrv1 protein, mouse