PMC8505801_01
Pedigree chart of (A) case 1, (B) case 2, and (C) case 3. Affected individuals are shaded in gray strips, and carriers are depicted with a dot.
fgene-12-724824-g001.jpg
PMC8505801_03_fgene-12-724824-g001.jpg
F1
Clinical photographs and radiographs of proband's (A-F) case 1, (G-H) case 1's mother, (J-L) case 1's father, (M-O) case 2, and (P) Case 3. Case 1 is observed with (A) chest deformity and enlarged elbow joints; (B) scoliosis; (C) deformities of interphalangeal joints; (D) knocked knees; (E) radiograph anterior-posterior view, showing osteopenia; (F) anterior beaking of vertebrae. (G-I) Clinical picture of mother (carrier) of case 1; (J-L) clinical picture of father (carrier) of case 1. Case 2 is observed with (M) scoliosis and (N,O)clinodactyly with deformities of interphalangeal joints. Case 3 is observed with (P) mild scoliosis.
fgene-12-724824-g002.jpg
PMC8505801_03_fgene-12-724824-g002.jpg
F2
PMC8505801_02
Pedigree chart of (A) case 1, (B) case 2, and (C) case 3. Affected individuals are shaded in gray strips, and carriers are depicted with a dot.
fgene-12-724824-g001.jpg
PMC8505801_03_fgene-12-724824-g001.jpg
F1
Clinical photographs and radiographs of proband's (A-F) case 1, (G-H) case 1's mother, (J-L) case 1's father, (M-O) case 2, and (P) Case 3. Case 1 is observed with (A) chest deformity and enlarged elbow joints; (B) scoliosis; (C) deformities of interphalangeal joints; (D) knocked knees; (E) radiograph anterior-posterior view, showing osteopenia; (F) anterior beaking of vertebrae. (G-I) Clinical picture of mother (carrier) of case 1; (J-L) clinical picture of father (carrier) of case 1. Case 2 is observed with (M) scoliosis and (N,O)clinodactyly with deformities of interphalangeal joints. Case 3 is observed with (P) mild scoliosis.
fgene-12-724824-g002.jpg
PMC8505801_03_fgene-12-724824-g002.jpg
F2
PMC8505801_03
Pedigree chart of (A) case 1, (B) case 2, and (C) case 3. Affected individuals are shaded in gray strips, and carriers are depicted with a dot.
fgene-12-724824-g001.jpg
PMC8505801_03_fgene-12-724824-g001.jpg
F1
Clinical photographs and radiographs of proband's (A-F) case 1, (G-H) case 1's mother, (J-L) case 1's father, (M-O) case 2, and (P) Case 3. Case 1 is observed with (A) chest deformity and enlarged elbow joints; (B) scoliosis; (C) deformities of interphalangeal joints; (D) knocked knees; (E) radiograph anterior-posterior view, showing osteopenia; (F) anterior beaking of vertebrae. (G-I) Clinical picture of mother (carrier) of case 1; (J-L) clinical picture of father (carrier) of case 1. Case 2 is observed with (M) scoliosis and (N,O)clinodactyly with deformities of interphalangeal joints. Case 3 is observed with (P) mild scoliosis.
fgene-12-724824-g002.jpg
PMC8505801_03_fgene-12-724824-g002.jpg
F2
Sanger sequencing chromatograms of all three proband's and their respective first-degree relatives (A) case 1, (B) case 2, and (C) case 3. Red and black arrows show the position of c.298T>A and c.296A>T variants, respectively.
fgene-12-724824-g003.jpg
PMC8505801_03_fgene-12-724824-g003.jpg
F3
Interestingly, we observed both cases 2 and 3 to be homozygous for the said variant, and their first-degree relatives (i.e., unaffected parents and/or siblings) were found to be heterozygous carriers (Figure 3).