Table 1
Clinical features
Subject no* | Mutation | | Inherited | | Sex | Age seen | OFC (cm) | CS criteria | | BRRS features | CS cutaneous signs (n)† | | CS mucosal signs | | Age by which walking | | SEN |
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1.1 | p.Gly171X | | Unknown | | F | 69 years | 60.0 | Yes | | M, B | >6 | | Mn, T | | No | | N |
2.1 | c.416delT | | FHx maternal | | F | 59 years | 62.9 | Yes | | M, H | >6 | | Mn, T | | Not known | | N |
3.1 | p.Ser170Arg | | Unknown | | M | 51 years | 64.8 | Yes | | M, L, H, P | >6 | | Mn, T | | By 48 months | | IQ 79 |
3.2 | p.Ser170Arg | | Paternal | | M | 17 years | 66.0 | No | | M, L, H, P | <6 | | N | | By 36 months | | SM |
4.1 | p.Gln87X | | FHx paternal | | F | 47 years | 61.0 | Yes | | M, H, B | >6 | | Mn, T | | By 18 months | | N |
5.1 | p.Gly127Arg | | Paternal | | F | 36 years | 61.4 | Yes | | M, L, | >6 | | N | | By 18 months | | N |
5.2 | p.Gly127Arg | | Paternal | | F | 41 years | 61.2 | Yes | | M, H | >6 | | N | | By 18 months | | N |
6.1 | p.Lys288X | | De novo | | M | 34 years | 66.0 | Yes | | M, L, H, P, B | >6 | | Mn, | | Not known | | N |
7.1 | Exon 1 deletion | | Unknown | | F | 33 years | 61.7 | Yes | | M, L, | >6 | | Mn, T | | By 11 months | | N |
8.1 | c.141delG | | FHx maternal | | M | 31 years | 65.0 | Yes | | M, L, P | >6 | | Mn, T | | Not known | | N |
8.2 | c.141delG | | FHx maternal | | F | 31 years | 62.0 | Yes | | M, L, | >6 | | Mn, T | | By 18 months | | N |
8.3 | c.141delG | | FHx maternal | | F | 29 years | 62.2 | Yes | | M | >6 | | Mn, T | | By 18 months | | N |
9.1 | p.Ser170Arg | | Paternal | | M | 29 years | 63.9 | Yes | | M | >6 | | Mn, T | | By 18 months | | SENM |
9.2 | p.Ser170Arg | | Unknown | | M | 57 years | 62.5 | Yes | | M | >6 | | Mn, | | By 18 months | | N |
10.1 | c.155-157delATG | | Paternal | | M | 19 years | 64.2 | Yes | | M, L, P | >6 | | Mn, T | | By 12 months | | N |
11.1 | c.800delA | | Maternal | | M | 4 years | 57.8 | No | | M, P | <6 | | N | | By 11 months | | SM |
11.2 | c.800delA | | FHx maternal | | F | 36 years | 62.2 | Yes | | M, L, H | >6 | | Mn, T | | By 12 months | | N |
12.1 | p.Arg173His | | Paternal | | M | 9 years | 57.7 | No | | M | >6 | | N | | By 22 months | | SM |
12.2 | p.Arg173His | | Unknown | | M | 43 years | 62.4 | No | | M, P, B | >6 | | T | | By 18 months | | N |
13.1 | c.1033ins17 | | Paternal | | F | 10 years | 57.5 | No | | M | <6 | | Mn, T | | By 26 months | | SENM |
13.2 | c.1033ins17 | | Unknown | | M | 36 years | 62.5 | No | | M, L, P | <6 | | Mn, T | | No | | N |
14.1 | p.Phe337Ser | | Maternal | | M | 9 years | 60.5 | Yes | | M, L, P, B | N | | N | | By 24 months | | SENM |
14.2 | p.Phe377Ser | | Not known | | F | 75 years | 60.0 | No | | M, B | <6 | | N | | Not known | | N |
14.3 | p.Phe377Ser | | Maternal | | M | 46 years | 64.3 | No | | M, L, H | >6 | | N | | By 18 months | | N |
14.4 | p.Phe377Ser | | Maternal | | F | 41 years | 60.0 | Yes | | M, L, | <6 | | N | | By 18 months | | N |
15.1 | c.940dupG | | Maternal | | M | 5 years | 57.0 | No | | M, L, | N | | T | | By 18 months | | SENM |
15.2 | c.940dupG | | De novo | | F | 35 years | 62.4 | Yes | | M, L, | >6 | | Mn, T | | By 18 months | | N |
16.1 | c.690delAC | | Paternal | | M | 9 years | 59.0 | No | | M, L, P | N | | T | | By 15 months | | SS |
16.2 | c.690delAC | | Fhx Paternal | | M | 42 years | 63.5 | Yes | | M, L, | >6 | | Mn, T | | Not known | | N |
16.3 | c.690delAC | | Paternal | | F | 12 years | 59.2 | No | | M | >6 | | T | | By 20 months | | SENM |
17.1 | c.164+1G>A | | De novo | | M | 15 years | 60.6 | No | | M, P | >6 | | Mn, | | By 24 months | | SS |
18.1 | p.Arg130X | | De novo | | M | 13 years | 60.4 | No | | M, P | <6 | | T | | By 14 months | | SS |
19.1 | c.634+5G>A | | De novo | | M | 11 years | 60.0 | Yes | | M, L, P, B | >6 | | T | | By 30 months | | SM |
20.1 | p.Lys128Asn | | De novo | | M | 9 years | 60.7 | Yes | | M, L, H | <6 | | Mn, T | | By 20 months | | SS |
21.1 | c.643dupA | | De novo | | M | 10 years | 64.5 | No | | M, H | <6 | | Mn, T | | By 18 months | | SENM |
22.1 | p.Arg173Cys | | De novo | | F | 8 years | 56.2 | No | | M | N | | N | | By 30 months | | SS |
23.1 | p.Asn48Lys | | De novo | | M | 7 years | 58.0 | No | | M, L, | <6 | | Mn, T | | By 15 months | | SM |
24.1 | p.Arg130X | | Paternal | | M | 47 months | 57.0 | No | | M | N | | N | | By 22 months | | SM |
24.2 | p.Arg130X | | Unknown | | M | 37 years | 64.8 | Yes | | M, L, P | >6 | | Mn, T | | By 18 months | | N |
24.3 | p.Arg130X | | Paternal | | M | 27 months | 54.0 | No | | M, L, | N | | N | | Not walking | | N/A |
25.1 | p.Arg130X | | De novo | | M | 26 months | 57.0 | No | | M, L, | <6 | | N | | By 24 months | | N/A |
26.2 | p.Arg233X | | Unknown | | F | 52 years | 60.6 | Yes | | M, H | >6 | | Mn, T | | By 18 months | | N |