PMC6757496_01
(A) The pedigree of the studied family. (B) Confirmation of novel pathogenic variant, c.9611_9612+8delTGGTGAGCAT (p.Leu3204Cysfs*17), in the MYO15A gene by Sanger sequencing.. The causative mutation was confirmed by capillary sequencing of DNA from the proband and her parents. The affected proband (IV:1) is homozygote for c.9611_9612+8delTGGTGAGCAT (p.Leu3204Cysfs*17) variant and parents (III:1, III:2) are heterozygote for c.9611_9612+8delTGGTGAGCAT (p.Leu3204Cysfs*17) variant in the MYO15A gene (NM_016239.4).
10.1177_1179547619871907-fig1.jpg
PMC6757496_01_10.1177_1179547619871907-fig1.jpg
fig1-1179547619871907
Her parents were consanguineous with F = 1/16 (first cousin) (Figure 1A), and clinical examination of the patient excludes dysmorphic features.