MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.
de Rocco
Daniela
D
Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, University of Trieste, 34137 Trieste, Italy.
Heller
Paula G
PG
Girotto
Giorgia
G
Pastore
Annalisa
A
Glembotsky
Ana C
AC
Marta
Rosana F
RF
Bozzi
Valeria
V
Pecci
Alessandro
A
Molinas
Felisa C
FC
Savoia
Anna
A
D000328:Adult; D000409:Alanine / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020409:Molecular Motor Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary; D016415:Sequence Alignment
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D001224:Aspartic Acid; D018995:Myosin Heavy Chains; D000409:Alanine