title: MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations.
abstract: We describe a large four-generational Chinese pedigree segregating MYH9 -related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA substitution. Analyzing the patterns of previously reported mutations revealed a limited spectrum of pathogenic variants. The implications of this finding are discussed.
authors.forename: Shufang
authors.initials: S
authors.lastname: Zhang
authors.forename: Xueya
authors.initials: X
authors.lastname: Zhou
authors.forename: Shengnan
authors.initials: S
authors.lastname: Liu
authors.forename: Tingting
authors.initials: T
authors.lastname: Bai
authors.forename: Yingai
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Shunlan
authors.initials: S
authors.lastname: Wang
authors.forename: Xuegong
authors.initials: X
authors.lastname: Zhang
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000097:blood / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics; D055815:Young Adult
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D004247:DNA; D018995:Myosin Heavy Chains