TABLE I.
Mutation Analysis of NIPBL and SMC1A Genes in Older Individuals With CdLS
| Mutations | #/Sex | Growth | Developmental level of mental retardation |
Major malformations |
|---|---|---|---|---|
| NIPBL | 13 | |||
| Nonsense | 2 | |||
| Q1413X | F | Tiny | Severe | Absent forearm, CP, VSD |
| S1459X | F | Tiny | Severe | Absent forearm, CP, Hip disl., bowel obstr. |
| Missense | 4 | |||
| R1856Ta | M | Normal | Severe | RD |
| R2298C | F | Small | Mild | RD, VSD, club foot |
| R2298H | M | Normal | Mild | RD, Pulm. stenosis |
| G2381A | M | Small | Mild | RD, Eso. web, Crypt. |
| Splice site | 3 | |||
| 5574 + 1G>T | F | Tiny | Severe | RD, CP, ASD |
| 611-2A>G | F | Tiny | Severe | Absent forearm, hip disl., CP |
| R1890R | M | Normal | Severe | RD, Pulm. stenosis, MP |
| Frameshift | 4 | |||
| 3023del5 | F | Small | Severe | Absent forearm, CP |
| 2969delG | M | Small | Severe | Absent forearm, CP, Crypt., MP |
| 7210delC | M | Small | Mild | RD, Hip disl., Cataract, Crypt. |
| 14_15insAT | F | Small | Mild | Sz., mitral stenosis, CP |
| SMC1A | 1 | |||
| F1122L | F | Normal | Mild | Scoliosis |
Small, below 5th centiles for wt, ht on standard growth charts; tiny, below 50th centiles on CdLS growth charts.
CP, cleft palate; MP, micropenis; ASD/VSD, cardiac defects; Crypt., cryptorchidism; Pulm, pulmonary; Disl., dislocation; RD, radial dislocation; Sz, seizures.
a
Familial.