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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Fig. 4

Segregation of MYO15A variants in two families, SB246 and 224. a-c Sanger sequencing traces for c.5504G > A (p.R1835H) + c.10245_10247delCTC (p.S3417del) compound heterozygote (SB246–482, 483 and 484). d Sanger sequencing traces for c.5504G > A carrier (SB246–485). e Sanger sequencing traces for c.10245_10247delCTC carrier (SB246–486). f Conservation of mutant residues among the orthologs from several species; p.R1835 and p.S3417 are conserved among all species, ranging from humans to zebrafish. g and h Sanger sequencing traces for c.9790C > T (p.Q3264X) + c.10263C > G (p.I3421M) compound heterozygote (SB224–437 and 592). i Sanger sequencing traces for c.9790C > T carrier (SB224–593). j Sanger sequencing traces for c.10263C > G carrier (SB224–594). k Conservation of mutant residues among the orthologs from several species; p.Q3264 and p.I3421 are conserved among all species, ranging from humans to zebrafish

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BMC Medical Genetics

ISSN: 1471-2350

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