Clinical features | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 |
---|---|---|---|---|---|---|---|
Gender | Male | Male | Female | Male | Male | Female | Male |
Ethnicity | Indian | Indian | Indian | Indian | German | German | German |
Age at last follow-up | 10 y | 3 y | 9 y | 6 y | 42 y | 39 y | 4 y |
Prenatal growth deficiency | – | + | – | + | – | – | – |
Birth weight | 3.25 kg | 2.5 kg | 3.25 kg | 2.2 kg | 3.58 kg | ND | 3.88 kg |
Birth height | ND | ND | ND | ND | 52 cm | ND | 51 cm |
OFC at birth | ND | ND | ND | ND | 37 cm | ND | 37 cm |
Clinical phenotype | |||||||
Intellectual disability | – | – | – | – | – | – | – |
Prominent forehead | – | + | + | + | + | + | + |
Midface hypoplasia | + | – | – | + | + | + | + |
Hearing loss | – | – | – | – | – | – | – |
Telecanthus | + | + | + | + | + | + | + |
Depressed nasal bridge | + | + | + | + | + | + | + |
Cleft palate | + | + | – | – | – | – | – |
Teeth anomaly | – | – | – | – | – | – | – |
Broad fingertips | + | – | + | + | + | + | + |
Short nails | – | – | – | – | – | – | – |
Airway abnormality | – | – | – | – | – | – | – |
Cardiac defect | – | – | – | – | – | – | – |
Cryptorchidism | – | – | NA | – | – | NA | – |
Spinal cord compression | – | – | – | – | – | – | – |
Skeletal phenotype | |||||||
Short stature | – | – | – | – | + | + | – |
Joint laxity | + | + | + | + | + | + | + |
Cylindrical fingers | – | + | + | + | + | + | + |
Pectus deformity | – | – | – | – | – | – | – |
Scoliosis | – | + | – | – | cervical scoliosis | + | – |
Abnormal thumbs/halluces (broad/bifid/spatulate) | + | + | + | – | + | + | + |
Club foot | + | + | + | + | + | + | + |
Hip dislocation | – | – | + | – | + | + | + |
Knee dislocation | + | + | + | + | + | + | + |
Elbow dislocation | + | + | – | + | + | + | + |
Radiographic findings | |||||||
Cervical vertebral dislocation | – | + | + | – | cervical instability | – | + |
Cervical scoliosis/kyphosis | + | + | + | – | + | – | + |
Wedge/block vertebrae | – | – | – | – | – | – | + |
Supernumerary carpal bones | + | – | + | – | + | n/a | n/a |
Delayed bone age | – | + | – | + | n/a | n/a | – |
Supernumerary tarsal bones | – | – | + | + | n/a | n/a | n/a |
Molecular findings | |||||||
FLNB sequence change (according to mRNA RefSeq NM_001164317.1 from GenBank) | c.4927G > A | c.5164G > A | c.4876G > T | c.4664G > A | c.2055G > C r.2055delgins28 | c.5021C > T | c.5021C > T |
de novo | + | + | absent in mother | + | + | n/a | inherited |
Amino acid change (according to protein RefSeq NP_001157789.1 from GenBank) | p.(Gly1643Ser) | p.(Gly1722Ser) | p.(Gly1626Trp) | p.(Gly1555Asp) | p.Gln685delins10 | p.(Ala1674Val) | p.(Ala1674Val) |
Amino acid change (according to protein RefSeq NP_001448.2 from GenBank) [24] | p.(Gly1612Ser) | p.(Gly1691Ser) | p.(Gly1595Trp) | p.(Gly1524Asp) | p.Gln685delins10 | p.(Ala1643Val) | p.(Ala1643Val) |
Protein domain | Ig repeat 15 | Ig repeat 15 | Ig repeat 15 | Ig repeat 14 | Ig repeat 5 | Ig repeat 15 | Ig repeat 15 |
Novel/reported | Novel | Reported [15] | Novel | Novel | Novel | Novel | Novel |