PMC3546164_01
Identification of the p.Val34Gly mutation in family 1. A) Family pedigree; B) Direct sequencing of PCR products of exon 1 demonstrates two overlapping peaks of the heterozygous c.101T > G mutation; C) Alignment of all human muscle and non-muscle myosins of class II with the conserved residues boxed. MYH1 (NM_005963), MYH4 (NM_017533), MYH2 (NM_017534), MYH8 (NM_002472), MYH3 (NM_002470), MYH13 (NM_003802), MYH7 (MN_000257), MYH6 (NM_002471), MYH9 (AB191263), MYH10 (NM_005964), MYH11 (NM_002474), and MYH14 (AY165122); D) Ribbon structure of the smooth muscle myosin motor domain (1br2). The side chain of Val34 (in the pdb numbering Val37) is indicated in red. The side chains of surrounding hydrophobic residues (I49, V57, V59, L61, L70 and I75) are shown in blue.
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PMC3546164_01_gr1.jpg
fig1
The proband (II-1; Table 1 and Fig. 1) was an 11-year-old boy referred for diagnostic investigation of familial thrombocytopenia.
PMC3546164_02
Identification of the p.Arg702Ser mutation in family 2. A) Family pedigree; B) Direct sequencing of PCR products of exon 16 with overlapping peaks of the heterozygous c.2104C > A mutation; C) Immunofluorescence analysis showing myosin-9 small aggregates in the patient neutrophils; D) Effect of the mutation on the structure (1br2). The ribbon representation is shown with the same orientation as before. The side chain of Arg702 is shown in blue, Glu94 is shown in red.
gr2.jpg
PMC3546164_02_gr2.jpg
fig2
The proband (II-1; Table 1 and Fig. 2) was a 44-year-old male referred for thrombocytopenia (platelet count 25 x 109/L) discovered at the age of 3 years when he underwent tonsillectomy complicated by prolonged bleeding.
PMC3546164_03
PMC3546164_04
PMC3546164_05