No. | Age (years) | Muta–tion | FTT | CF | CH | CHD | HCM | Arr | Tumour | Warts | M | CM | Other CNS | EF | Other | |||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FTT, Failure to thrive; CF, Classic facies; CS, Classic hands; CHD, Congenital heart disease; Arr, Arrythmia; HCM, Cardiomyopathy; M, Macrocephaly, relative or absolute; CM, Chiari malformation; EF, endocrine features; Rhabdo, rhabdomyosarcoma; GH, Growth hormone deficiency or treatment; Hypo, hypoglycaemia; PP, precocious puberty; Epi, epilepsy; defi, deficiency; CA, cerebral atrophy; VD, Ventricular dilatation. G12S, glycine to serine (nt. 34G→A); G12C, glycine to cysteine (nt. 34G→T); G12A, glycine to alanine (nt. 35 G→C); G12E glycine to glutamic acid (nt. 35G→GA);K117R lysine to arginine (nt. 350A→G). *First reported by Kerr et al.8 | ||||||||||||||||||||||||||||||
1* | 11 | G12S | + | + | + | + | + | + | Rhabdo | + | + | + | GH | Severe scoliosis | ||||||||||||||||
2 | 5 | G12S | + | + | + | − | − | + | – | − | + | − | – | − | ||||||||||||||||
3 | 20 | G12S | + | + | + | − | + | + | – | + | + | − | – | − | ||||||||||||||||
4 | 4 | G12S | + | + | + | + | − | − | – | − | + | − | Epi | Hypo, GH | Partial response to clonidine stimulation | |||||||||||||||
5 | – | G12C | + | + | + | − | + | − | Rhabdo | − | +− | − | – | − | Died aged 7 months | |||||||||||||||
6 | 14 | G12S | + | + | + | − | − | − | – | + | + | − | − | − | Severe scoliosis | |||||||||||||||
7 | – | G12A | + | + | + | − | + | − | – | + | + | − | – | − | Died aged 25 years, respiratory failure | |||||||||||||||
8 | – | G12S | + | + | + | − | ? | ? | Rhabdo | − | + | − | – | − | Died aged 7 years, | |||||||||||||||
9 | 14 | G12S | + | + | + | − | − | − | – | − 8 years | + | − | – | − | ||||||||||||||||
10 | 1 | G12S | + | + | + | − | + | − | – | − | + | VD | Hypo | Subglottic stenosis | ||||||||||||||||
11 | – | G12E | + | + | + | − | + | − | – | − | − | − | CA | Hypo | Died aged 6 months | |||||||||||||||
12 * | – | G12A | + | + | + | + | − | − | Rhabdo | + | − | – | − | Died aged 5 years, | ||||||||||||||||
13 | 3 | G12S | + | + | + | − | − | − | – | − | + | − | – | − | ||||||||||||||||
14 | 10 | G12S | + | + | + | − | + | − | – | − | + | − | VD | PP, GH | ||||||||||||||||
15 | 3 | G12S | + | + | + | − | − | − | – | − | + | − | – | − | ||||||||||||||||
16 | 9 | K117R | + | + | + | − | − | − | – | − | + | − | – | − | ||||||||||||||||
17 | 4 | G12S | + | + | + | − | − | + | – | − | + | − | – | − | ||||||||||||||||
18 | 6 | G12C | + | + | + | − | + | − | – | + | + | − | VD, Epi | _ | ||||||||||||||||
19 | 8 | G12S | + | + | + | − | − | − | – | ? | + | − | – | − | ||||||||||||||||
20 | 1 | G12S | + | + | + | − | + | + | – | − | + | − | – | − | ||||||||||||||||
21 | 23 | G12S | + | + | + | + | − | − | – | + | + | − | – | − | Recurrent breast lumps | |||||||||||||||
22 | 10 | G12S | + | + | + | − | + | + | – | + | + | + | – | GH | ||||||||||||||||
23 | 2 | G12S | + | + | + | − | − | + | – | − | + | − | – | − | ||||||||||||||||
24 | 16 | G12S | + | + | + | − | + | − | – | + | + | − | – | − | ||||||||||||||||
25 | 5 | G12S | + | + | + | − | − | − | – | − | + | − | – | − | ||||||||||||||||
26 | 2 | G12S | + | + | + | + | + | + | – | − | + | − | – | − | ||||||||||||||||
27 | 9 | G12S | + | + | + | − | + | + | – | − | + | − | – | − | ||||||||||||||||
28 | 7 | G12S | + | + | + | + | − | + | – | + | + | − | – | − | ||||||||||||||||
29 | 10 | G12S | + | + | + | − | − | − | – | + | + | − | – | − | ||||||||||||||||
30 | 11 | G12S | + | + | + | − | − | − | – | + | + | − | – | IGF-1 defic | ||||||||||||||||
31 | 4 | G12S | + | + | + | − | − | − | – | − | ? | − | Epi | − | ||||||||||||||||
32 | 10 | G12A | + | + | + | − | + | − | Rhabdo | + | + | − | – | − | ||||||||||||||||
33 | 27 | G12S | + | + | + | − | + | − | – | + | − | − | – | − | ||||||||||||||||
34 | 12 | G12S | + | + | + | − | + | + | – | − | + | − | Epi | − | Laryngeal diastema | |||||||||||||||
35 | 20 | G12S | + | + | + | − | + | − | – | + | + | − | – | − | Gynaecomastia at 7 years, | |||||||||||||||
36 | 4 | G12S | + | + | + | − | + | − | – | − | − | − | – | − | Tracheomalacia | |||||||||||||||
37 | ? | G12S | + | + | + | ? | ? | ? | – | ? | ? | ? | ? | ? |