Table 1.
Genetic status of patients according to initial phenotype, and percentages of mutated alleles by phenotype and mutation type
| Phenotype | Genetic Status, No. of Patients (%) | Type Of Mutation: No. (%) of Mutated Alleles (N=216) | |||||
|---|---|---|---|---|---|---|---|
| Homozygous | Compound Heterozygous | Only One Heterozygous Mutation | Large Deletions | Splice-Site Mutations | Frameshift/Nonsense Mutation | Missense Mutations | |
| ABS/NBS | 22 (65) | 10 (29) | 2 (6)a | 37 (56) | 7 (11) | 5 (7) | 17 (26) |
| CBS | 20 (39) | 27 (53) | 4 (8)b | 37 (38) | 6 (6) | 22 (22) | 33 (34) |
| GLS | 14 (47) | 8 (27) | 8 (27)b | 12 (23) | 0 | 10 (19) | 30 (58) |
| ALL | 56 (49) | 45 (39) | 14 (12) | 86 (40) | 13 (6) | 37 (17) | 80 (37) |
a
Mutations in SLC12A1, KCNJ1, and BSND were excluded.
b
Mutations in SLC12A3 were excluded.