PMC8113815_01
Phenotyope of the patients. (P1a,b) Hypotonia, clenched hands, pectus excavatum and bilateral plastered clubfoot, (P2a-d) hypotonia, contractures of fingers and bilateral clubfoot, (P3a-c) bilateral thumb flexion contractures and bilateral equinovarus, scoliosis.
fgene-12-620752-g0001.jpg
PMC8113815_02_fgene-12-620752-g0001.jpg
F1
A neurological examination at the age of 3 4/12 showed head circumference of 53 cm (90-97c), global hypotonia with dropping head in traction test, mild facial muscle weakness, high palate, mild bilateral thumb flexion contractures and bilateral equinovarus, scoliosis as well as absent deep tendon reflexes (Figure 1-P3a-c).
Results of segregation analysis in families with biallelic PIEZO2 mutations. In family 1 (P1) analysis was performed with NGS-based amplicon deep sequencing. In families 2 and 3 (P2,P3) classic Sanger sequencing was used to confirm the presence of specific variants. For all probants, results from exome sequencing are shown. Blue line on Sanger panel for the mother of probant 2 indicates deleted sequence.
fgene-12-620752-g0002.jpg
PMC8113815_02_fgene-12-620752-g0002.jpg
F2
A neurological examination at the age of 3 4/12 showed head circumference of 53 cm (90-97c), global hypotonia with dropping head in traction test, mild facial muscle weakness, high palate, mild bilateral thumb flexion contractures and bilateral equinovarus, scoliosis as well as absent deep tendon reflexes (Figure 1-P3a-c). In case of patient 2, the mother was a somatic mosaic for c.6175_6191del variant (Figure 2).
PMC8113815_02
Phenotyope of the patients. (P1a,b) Hypotonia, clenched hands, pectus excavatum and bilateral plastered clubfoot, (P2a-d) hypotonia, contractures of fingers and bilateral clubfoot, (P3a-c) bilateral thumb flexion contractures and bilateral equinovarus, scoliosis.
fgene-12-620752-g0001.jpg
PMC8113815_02_fgene-12-620752-g0001.jpg
F1
A neurological examination at the age of 3 4/12 showed head circumference of 53 cm (90-97c), global hypotonia with dropping head in traction test, mild facial muscle weakness, high palate, mild bilateral thumb flexion contractures and bilateral equinovarus, scoliosis as well as absent deep tendon reflexes (Figure 1-P3a-c).
Results of segregation analysis in families with biallelic PIEZO2 mutations. In family 1 (P1) analysis was performed with NGS-based amplicon deep sequencing. In families 2 and 3 (P2,P3) classic Sanger sequencing was used to confirm the presence of specific variants. For all probants, results from exome sequencing are shown. Blue line on Sanger panel for the mother of probant 2 indicates deleted sequence.
fgene-12-620752-g0002.jpg
PMC8113815_02_fgene-12-620752-g0002.jpg
F2
A neurological examination at the age of 3 4/12 showed head circumference of 53 cm (90-97c), global hypotonia with dropping head in traction test, mild facial muscle weakness, high palate, mild bilateral thumb flexion contractures and bilateral equinovarus, scoliosis as well as absent deep tendon reflexes (Figure 1-P3a-c). In case of patient 2, the mother was a somatic mosaic for c.6175_6191del variant (Figure 2).