PMC8851471_01
Clinical features of the proband and Sanger sequencing results of the family. (A-C) The ptosis phenotype at birth, at the age of 6 years before the reconstructive surgery, and at the age of 6 years after the reconstructive surgery, respectively, showing the improvement in ptosis symptom for the proband. (D) DR images acquired at the age of 7 years (1 and 2) and at the age of 8 years (3 and 4), showing the significant aggravation of the scoliosis condition for the proband. (E) Sanger sequencing results of c.191delC for the family. The proband is homozygous. The father is heterozygous, whereas the mother and the two sisters are wild-type.
fgene-12-780363-g001.jpg
PMC8851471_01_fgene-12-780363-g001.jpg
F1
The proband was an 8-year-old boy with ptosis since birth (Figure 1A). At the age of 6 years, the proband underwent reconstructive surgery, and the symptom of ptosis was improved (Figure 1B, before surgery; Figure 1C, after surgery). And at the age of 6 years, the proband was further diagnosed with scoliosis by computed tomography at a local hospital (data not shown) and further diagnosed with scoliosis and dysmorphic hypoplastic ribs with fusion anomalies, however, with no vertebral anomalies, by digital radiography (DR) at Zhengzhou Orthopedic Hospital at the age of 7 years (Figure 1D, 1 and 2). At the age of 8 years, the DR images suggested a significant aggravation of scoliosis for the proband (Figure 1D, 3 and 4).
Functional study of c.191delC and genome-wide SNP array results of the proband and the father. (A) p.Ala64 is highly conservative across different species. (B), (C) Western blotting indicated the significant downregulation of MYF5 by 69.14% (**p < 0.01) in cells transfected with p3xFLAG-CMV-10-MYF5-MU compared to those transfected with p3xFLAG-CMV-10-MYF5-WT, resulting in a truncated protein with a size of ~20 kDa. Vector: p3xFLAG-CMV-10. (D), (E) Genome-wide SNP array results of the proband and the father, respectively (only chromosome 12 shown).
fgene-12-780363-g002.jpg
PMC8851471_01_fgene-12-780363-g002.jpg
F2
And at the age of 6 years, the proband was further diagnosed with scoliosis by computed tomography at a local hospital (data not shown) and further diagnosed with scoliosis and dysmorphic hypoplastic ribs with fusion anomalies, however, with no vertebral anomalies, by digital radiography (DR) at Zhengzhou Orthopedic Hospital at the age of 7 years (Figure 1D, 1 and 2).