Table 3. Description of the 8 New Mutations.
| Patient No. (Geographic Origin) | Nucleotide Change (Exon) | Amino Acid Change | Mutation Status |
|---|---|---|---|
| 8 (Tunisia) | c.809C>T (exon 6) | p.Ser270Phe | Compound heterozygous (c.875-1G>A (exon 7)) |
| 19 (France) | c.336_337delCA (exon 3) | p.His112Glnfsa10 | Compound heterozygous (c.617C>T (exon 5) p.Pro206Leu) |
| 30 (France) | c.774_775insCTTTCAACTA(exon 6) | p.Val259Leufsa14 | Compound heterozygous (c.837G>A (exon 6) p.Trp279a) |
| 32 (Turkey) | c.940_956del17 (exon 7) | p.Lys314Serfsa2 | Homozygous |
| 41 and 42 (Brazil) | del exon 4 | p.Glu162_Gln181del20 | Homozygous |
| 45 (the Netherlands) | c.559C>T (exon 5) | p.Gln187a | Compound heterozygous (c.837G>A (exon 6) p.Trp279a) |
| 46 and 47 (Morocco) | c.585C>A (exon 5) | p.Tyr195a | Homozygous |
| 48, 49, and 50 (India) | c.596delG (exon 5) | p.Arg199Leufsa15 | Homozygous |
Abbreviations: del, deletion; ins, insertion; fs, frameshift.
a
Indicates stop codon.