Table 2

Summary of the mutations identified in the patients analysed. In each case, the nucleotide and the amino acid change are indicated together with the number of the corresponding exon. Nucleotide and amino acid numbers are given according to GenBank entry U75653. The status of the mother’s DNA is indicated when known

Patient IDNucleotide changeAmino acid changeExonMother’s status
1C775TPro190Ser7Unknown
2G731AGly175Glu7Carrier
3A863CGln219Pro8Carrier
4A743GΔ (Val178-Lys198)7Carrier
5G943TArg246Leu9Carrier
6G952TGly249Cys9Not carrier