Table 2.
Clinical characterization of individuals with heterozygous SRSF1 variants
|
Subjects |
I1 |
I2 |
I3 |
I4 |
I5 |
I6 |
I7 |
I8 |
I9 |
I10 |
I11 |
I12 |
I13 |
I14 |
I15 |
I16 |
I17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | F | F | M | M | F | F | M | F | M | M | F | F | F | M | M | F | F |
| Pregnancy/Birth | |||||||||||||||||
| Pregnancy complications | + | + | – | – | – | – | + | – | – | – | – | – | – | + | + | – | + |
| Gestational weeks | 36 | 40 | 38 | Full term | 39 | 37 | 31 | 38 | Full term | ND | Full term | 41 | 39 | 41 | 39 | 38 | ND |
| Birth weight (g) (SD) | 1,700 (−2.6) | 3,300 (−0.5) | 3,180 (0) | 2,920 (−1.5) | 3,100 (−0.5) | 2,550 (−0.6) | 1,765 (+0.6) | 2,790 (−0.6) | 3,827 (+0.5) | ND | 3,430 (0) | 3,700 (+0.6) | 3,997 (+1.7) | ND | 2,980 (−1) | 3,065 (+0.1) | ND |
| Birth length (cm) (SD) | 39 (−3.6) | 49.5 (−0.4) | 51 (+1) | 45.5 (−2.8) | 63 (−0.2) | 46 (−0.7) | 40.5 (−0.2) | 45 (−1.8) | 53.5 (+1.3) | ND | ND | 51 (+0.4) | 50.8 (+0.9) | ND | 50 (0) | 51 (+1.3) | ND |
| Birth OFC (cm) (SD) | 30.5 (−1.5) | 35 (+0.4) | 35 (+0.4) | 35 (−0.1) | 34 (−0.3) | 32 (−1) | 30 (+0.4) | 33.5 (−0.2) | 35 (−0.2) | ND | ND | 34 (−0.5) | ND | ND | 35 (+0.2) | 34 (+0.2) | ND |
| Neonatal complications | + | – | + | + | – | + | – | – | + | – | + | – | + | + | – | + | + |
| Growth | |||||||||||||||||
| Age at last visit | 18 years | 4 years 9 months | 2 years | 34 years | 6 years 8 months | 4 years | 5 years 2 months | 3 years 1 month | 8 years 5 months | 23 years 9 months | 5 years | 3 years 8 months | 2 years 2 months | 28 years | 18 years | 1 year 2 months | 13 years 6 months |
| Weight last visit (kg) (SD) | 54.2 (−0.3) | 17.5 (+0.2) | 11.6 (−0.8) | 65.6 (−0.4) | 20 (−0.5) | 14.5 (−0.8) | 19 (+0.1) | 10 (−2.8) | 128 (+0.1) | 41 (−3.3) | 19.7 (+0.5) | 17.8 (+1) | 12.7 (+0.2) | 57.7 (−1.4) | 57.6 (−1) | 8.9 (−1.2) | ND |
| Height last visit (cm) (SD) | 152 (−1.8) | 103 (−0.5) | 86 (−0.4) | 189.5 (+2) | 119.5 (+0.1) | 98.3 (−0.6) | 112.8 (+0.7) | 84 (−2.7) | 28 (+0.4) | 156 (−2.9) | 109 (+0.3) | 99 (+0.7) | 84.2 (+0.9) | 174 (−0.4) | 180.5 (+0.7) | 77.4 (+0.5) | 144 (−2) |
| BMI last visit (kg/m2) | 23.5 (+0.6) | 16.5 (+0.8) | 15.7 (−0.2) | 18.3 (−1.6) | 14 (−0.9) | 15 (−0.2) | 14.9 (−0.3) | 14.2 (−1) | 17.1 (+0.7) | 16.8 (−2.4) | 16.6 (+0.8) | 18.2 (+1.8) | 17.9 (+1.6) | 19.1 (−0.9) | 17.7 (−1.4) | 14.9 (−0.9) | ND |
| OFC last visit (cm) (SD) | 55 (+0.6) | 51 (+0.6) | 50 (+1) | 59 (+2.7) | 52.5 (+0.6) | 48.5 (−0.7) | 51 (−0.1) | 45.5 (−2.9) | 51.8 (−0.4) | 54.5 (−0.4) | 48.7 (−1.1) | 49 (−1) | 47.8 (+0.1) | 56 (+0.6) | 55 (−0.1) | 47 (+1.1) | 50 (−2.6) |
| Failure to thrive | + | – | – | – | – | ND | – | + | – | + | – | + | – | + | – | – | + |
| Truncal overweight | + | – | Trunk adiposity | – | – | – | – | – | – | – | – | – | + | – | – | – | – |
| Neurological abnormalities | |||||||||||||||||
| ID/DD | Mild to moderate | Mild to moderate | Mild to moderate | LD | Mild | Yes | Severe | Severe | Borderline | Severe | Moderate | Moderate | Yes | Mild | Mild | Yes | Yes |
| Motor delay | + | + | + | – | + | + | + | + | – | + | – | + | + | + | – | + | + |
| Speech delay | + | + | + | + | + | + | + | + | + | + | – | + | + | + | + | + | + |
| Behavioral disorders | + | + | – | + | + | – | + | – | + | + | + | + | – | + | + | + | + |
| Hypotonia | + | + | + | + | Buccal hypotonia | – | – | + | – | + | – | – | + | + | + | + | ND |
| Seizures | – | – | – | – | – | – | – | – | – | + | – | – | – | + | – | + | – |
| Brain abnormalities MRI | + | + | – | – | – | ND | + | + | – | – | – | – | + | ND | ND | + | ND |
| Neurosensory abnormalities | |||||||||||||||||
| Hearing loss | – | – | – | – | – | ND | – | – | + | – | – | – | – | – | – | – | – |
| Vision problems | + | + | – | ND | – | + | – | + | – | + | – | ND | + | – | + | – | + |
| Congenital Malformations | |||||||||||||||||
| Cardiac | + | + | – | – | – | + | – | ND | + | + | – | – | – | + | – | – | ND |
| Urogenital/kidney | – | – | + | + | – | ND | – | – | + | + | – | ND | – | – | + | – | ND |
| Others | Polycystic spleen | – | – | – | – | – | – | – | – | – | – | – | – | Hernia, diastasis | – | – | – |
| Skeletal abnormalities | |||||||||||||||||
| Scoliosis | + | – | + | + | – | – | – | – | – | – | – | – | – | + | + | – | – |
| Pectus deformity | – | – | – | + | – | + | – | – | – | – | – | – | – | + | + | – | – |
| Other | Genu varum, Equinova-rus | – | – | Arachno-dactyly | Brachymetatarsia Fallen arches |
– | – | – | L1 vertebral hypoplasia Kyphosis |
Asymme-tric chest | – | – | – | Dolichostenomelia Equinova-rus Postaxial hexa-dactyly |
Metatarsus varus Arachnodactyly |
– | Genu valgum |
| Others | |||||||||||||||||
| Facial features | + | + | + | + | + | + | + | – | + | + | + | + | + | + | + | + | + |
| Cutaneous abnormalities | + | – | – | – | + | + | – | – | – | – | – | – | + | – | – | – | – |
| Other diagnosis | – | – | – | – | – | – | – | – | – | Diagnosed Hermansky Pudlak Syndrome | – | MBD6 variant | – | – | – | – | 15q11.2 BP1-BP2 microdeletion |
ND, no data; OFC, occipito-frontal circumference; BMI, body mass index.