Table 1 Summary of clinical and molecular data of patients with Floating-Harbor syndrome
Patient A | Patient B* | Patient C | Patient D | Patient E | |
|---|---|---|---|---|---|
SRCAP mutation | Exon 34 | Exon34 | Exon 34 | Exon 34 | Exon 33 |
c.7395delA (p.Val2466Tyrfs*9) | c.7218dupT (p.Gln2407Serfs*36) | c.7330C > T (p.Arg2444*) | c.7303C > T (p.Arg2435*) | c.6985C > T (p.Arg2329*) | |
de novo | de novo | de novo | de novo | de novo | |
Sex | Female | Female | Female | Female | Female |
Birth weight (SD) | −1 | −1 | −1.3 | −1.3 | Mean |
Birth length (SD) | −2 | −1.8 | −1 | −1.5 | −1 |
OFC at birth (SD) | −1.5 | −1.5 | −0.5 | n.d. | Mean |
Age at first assessment | 2 years | 2 years | 4 years | 5 years | 5 years 4 months |
Short stature (SD) | −2.5 | −3.2 | −3.6 | −2 | −3.4 |
Age at last assessment | 10.5 years | 22 years | 21 years | 7 years 3 months | 10 years |
Height (SD) | −2 | 154 cm; -1.8 | 140 cm; -3.7 | −2 | −1.7 |
OFC (SD) | −1 | −0.7 | −1.6 | −0.4 | −1.7 |
ID | + | + | + | + | - |
Language impairment | + | + | + | + | + |
Craniofacial features | Low-hanging columella, short philtrum, thin lips | Broad nasal tip, long columella, short philtrum, thin lips, posteriorly rotated ears | Low-hanging columella, short philtrum, thin lips | Low-hanging columella, short philtrum, thin lips | Prominent nose, low-hanging columella, short philtrum, thin lips |
Skeletal anomalies | Delayed bone age, brachydactyly and clinodactyly V | Delayed bone age, clinodactyly V, brachydactyly, broad thumbs | Delayed bone age, broad fingertips, pseudoarthrosis of clavicles | Delayed bone age, brachydactyly V | Broad fingertips, clinodactyly V |
Treatment | GH treatment (between the 3rd and the 6th year of life) | GH treatment (between the 5th and the 14th year of life) | - | - | GH treatment |
Other findings | Behavioural difficulties | Delayed puberty, primary ovarian insufficiency | Hearing problems, behavioural difficulties, hypermenorrhoea | Hearing loss, microdontia | Behavioural problems |