case_images: PMC10800138_01
case_images: Pedigree of the studied family with an autosomal recessive pattern of inheritance.
case_images: ijo-36-355-g001.jpg
case_images: PMC10800138_01_ijo-36-355-g001.jpg
case_images: F1
case_images: The family pedigree is depicted in Figure 1.
case_images: Sanger sequencing chromatograms of chromosome 17 at position 18166481 for the patient (A) and his parents (B,C) are shown.
case_images: ijo-36-355-g002.jpg
case_images: PMC10800138_01_ijo-36-355-g002.jpg
case_images: F2
case_images: Figure 2 shows that the patient and his parents had the MYO15A mutation in the homozygous and heterozygous states, respectively. Threonine (AAG>ACG) at the 3303-position of the MYO15A protein (Figure 2D). These observations suggest that NM_016239.4 (MYO15A): c.9908A>C; p.