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.
Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, University of Trieste, 34137 Trieste, Italy.
Daniela
D
de Rocco
Paula G
PG
Heller
Giorgia
G
Girotto
Annalisa
A
Pastore
Ana C
AC
Glembotsky
Rosana F
RF
Marta
Valeria
V
Bozzi
Alessandro
A
Pecci
Felisa C
FC
Molinas
Anna
A
Savoia
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