期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 56, 期 1, 页码 7-12出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.10.009
关键词
MYH9-related disease; MYH9 gene; Mutational screening; Missense mutation; In frame deletion/duplication; Genotype-phenotype correlation
资金
- Telethon Foundation [GGP06177]
- Italian Ministry of Health (PRIN)
- Italian ISS (Istituto Superiore di Sanita)
- IRCCS Burlo Garofolo [34/07]
- IRCCS Policlinico San Matteo Foundation
- Medical Research Council [MC_U117584256] Funding Source: researchfish
- MRC [MC_U117584256] Funding Source: UKRI
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. (c) 2012 Elsevier Masson SAS. All rights reserved.
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