title: A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.
abstract: Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. Several mutations in the skeletal muscle calcium channel α-subunit gene CACNA1S have been documented to be causative for HypoPP, but mutations in other genes have also been implicated in HypoPP. To further reveal the genetic causes of HypoPP, we genotyped members of a five-generational Chinese family with HypoPP patients and identified a novel His916Gln mutation in all male HypoPP patients of the family. Clinical analysis demonstrated that the penetrance of the mutation was complete in male carriers, but we did not find evident clinical features in female carriers. This study expanded the spectrum of CACNA1S mutations associated with HypoPP and demonstrated a gender difference in the penetrance of the disease.
authors.affiliation: Genomics Research Center, Harbin Medical University, Harbin, China.
authors.forename: Fei-Feng
authors.initials: FF
authors.lastname: Li
authors.forename: Qian-Qian
authors.initials: QQ
authors.lastname: Li
authors.forename: Zhen-Xuan
authors.initials: ZX
authors.lastname: Tan
authors.forename: Si-Yao
authors.initials: SY
authors.lastname: Zhang
authors.forename: Ji
authors.initials: J
authors.lastname: Liu
authors.forename: Er-ying
authors.initials: EY
authors.lastname: Zhao
authors.forename: Gui-Chun
authors.initials: GC
authors.lastname: Yu
authors.forename: Jin
authors.initials: J
authors.lastname: Zhou
authors.forename: Li-Ming
authors.initials: LM
authors.lastname: Zhang
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D020746:Calcium Channels, L-Type; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D017354:Point Mutation; D011487:Protein Conformation; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D012727:Sex Characteristics; D013045:Species Specificity; D055815:Young Adult
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type