MYH9 -related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

Abstract MYH9 -related disease ( MYH9- RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9 , the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9 -RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophil...

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Published in:European journal of medical genetics Vol. 56; no. 1; pp. 7 - 12
Main Authors: De Rocco, Daniela, Zieger, Barbara, Platokouki, Helen, Heller, Paula G, Pastore, Annalisa, Bottega, Roberta, Noris, Patrizia, Barozzi, Serena, Glembotsky, Ana C, Pergantou, Helen, Balduini, Carlo L, Savoia, Anna, Pecci, Alessandro
Format: Journal Article
Language:English
Published: Netherlands Elsevier Masson SAS 01-01-2013
Elsevier
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Summary:Abstract MYH9 -related disease ( MYH9- RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9 , the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9 -RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy. The spectrum of mutations responsible for MYH9 -RD is limited. We report five families, each with a novel MYH9 mutation. Two mutations, p.Val34Gly and p.Arg702Ser, affect the motor domain of myosin-9, whereas the other three, p.Met847_Glu853dup, p.Lys1048_Glu1054del, and p.Asp1447Tyr, hit the coiled-coil tail domain of the protein. The motor domain mutations were associated with more severe clinical phenotypes than those in the tail domain.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.10.009