Table 1
Clinical findings in patients with the R276X (826C→T) SALL1 mutation
| Patient | Age (years) | Anus | Hands | Ears | Hearing | MR | Kidneys | RF | Feet | UG | Heart | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| The first column identifies the patients and their families. For example, “3/1, F” reads: family 3, patient no. 1, female. | ||||||||||||
| APA, anteriorly placed anus; APL, aplastic/aplasia; ASD, atrial septum defect; bil., bilateral; CFT, club feet; DPL, dysplastic; F, female; HPL, hypoplastic; HSP, hypospadias; IA, imperforate anus (type not specified); IUGR, intrauterine growth retardation; M, male; Micr., Microtia; MR, mental retardation; MMR, mild mental retardation; N, normal (clinically and by further testing if required); NR, no abnormality reported (clinically normal; no further testing performed); PC, polycystic; PP, preaxial polydactyly; RC, reduced clearance; RF, renal function; SNHL, sensorineural hearing loss; T, thumb; TT, triphalangeal thumbs; UG, urogenital; VSD, ventricular septum defect. | ||||||||||||
| 3/1, M5 | 14 | IA/fistula | PP | DPL | SNHL | MMR | N | No | CFT | HSP | NR | |
| 4/1, M5 | 6 | IA | TT | DPL | SNHL | NR | PC | RC | CFT | HSP | NR | |
| 5/1, M5 | ? | “Bucket handle” | TT | DPL | SNHL | NR | Unil. APL | No | Overlapping toes, dorsoflexion | N | VSD | |
| 103/1, M | 5 | Skin tag | PP | Microtia | SNHL | No | Bil. HPL | RF | Bil. APL 2nd and 3rd toes | HSP | Small VSD | Posterior cleft palate |
| 119/1, F | 3 | IA/ fistula | TT | DPL, low set, tags | SNHL | NR | N | N | Dorsoflexion | N | N | |
| 149/1, M | 3 | IA | TT | DPL, tags | SNHL | NR | DPL R | RC | N | N | Small VSD | |
| 182/1, M | 6 | IA | PP | DPL, tags | N | SMR | N | N | Overlapping toes | N | N | Abdominal muscle diastasis R |
| 186/1, M | 34 | IA | PP | Microtia, low set | SNHL | No | N | No | Bil. APL of 2 toes, syndactly 3/4 L | N | TOF | |
| 188/1, M | 2 | IA | N | DPL | N | No | Bil. HPL | RC | N | N | N | High blood pressure |
| 205/1, F | 19 | Skin tag, const. | TT, PP | DPL, tag R | SNHL | No | Unilateral APL | No | Overlapping toes, flat feet | N | NR | Asymmetric face |
| 224/1, F | 20 | APA | TT, PP R | DPL | SNHL | No | N | No | Overlapping toes R | N | ASD, VSD | |
| 224/2, F | 4/12 | IA/fistula | PP,TT | DPL, tags | NR | NR | N | No | Bilateral APL 3rd ray, bilateral syndactly 1/2 | N | severe TOF | IUGR, APL central pulmonary arteries |
| TB66 | ? | IA/fistula | PP, TT, SD | DPL, tags | mixed | NR | N | NR | NR | NR | VSD | Uterovaginal HPL |
| TB76 | ? | IA/fistula | PP, TT | Microtia, EAA, tags, pits | SNHL | NR | Bil. HPL | NR | Malformed | NR | NR | |
| TB86 | ? | IA | PP, TT | Microtia, EAA | mixed | NR | NR | RF | NR | NR | NR | Retinal maculopathy |
| Pat.2, M12 | ? | Raphe, skin tag | PP | Microtia, | NR | NR | Bil. HPL | NR | Split feet, 1–2 syndactly L, 4–5 syndactyly R | HSP | VSD | N. VII weakness L, asymmetric face |
