Table 1.

Genetic status of patients according to initial phenotype, and percentages of mutated alleles by phenotype and mutation type

PhenotypeGenetic Status, No. of Patients (%)Type Of Mutation: No. (%) of Mutated Alleles (N=216)
HomozygousCompound HeterozygousOnly One Heterozygous MutationLarge DeletionsSplice-Site MutationsFrameshift/Nonsense MutationMissense Mutations
ABS/NBS22 (65)10 (29)2 (6)a37 (56)7 (11)5 (7)17 (26)
CBS20 (39)27 (53)4 (8)b37 (38)6 (6)22 (22)33 (34)
GLS14 (47)8 (27)8 (27)b12 (23)010 (19)30 (58)
ALL56 (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.