Table 2 Genotype/phenotype correlation for 8 recurring mutation in Chinese patients
Mutation | Exon | Number of Alleles | Phenotype |
|---|---|---|---|
c.4delC | 1 | 9 | 3 type B patients in homozygosity; 3 intermediate patients in heterozygosity |
c.842-849dup8 | 2 | 7 | 1 type A patient in homozygosity; 5 type A patients in heterozygosity |
c.742G>T (p.Glu248X) | 2 | 4 | 3 type A patients in heterozygosity; 1 intermediate patient in heterozygosity |
c.1458T>G (p.Ser486Arg) | 5 | 4 | 2 type A patients in heterozygosity;1 intermediate patient in heterozygosity; 1 type B patient in heterozygosity |
c.1565A>G (p.Asn522Ser) | 6 | 3 | 1 type B patient in homozygosity;1 type B patitent in heterozygosity |
c.1144C>T (p.Leu382Phe) | 3 | 2 | 2 type B patients in heterozygosity |
c.688T>C (p.Arg230Cys) | 2 | 2 | 1 type B patients in heterozygosity, 1 intermediate patient |
c.1451C>T (p.Ala484Val) | 5 | 2 | 1 type A patient in heterozygosity; 1 type B patient in heterozygosity |