Table 2.
BCS1L Mutations Detected in the Finnish Patients with GRACILE Syndrome and in Three British Patients[Note]
|
NucleotideChange |
|||||
| Patient and Mutation Type | Homozygous/Heterozygous | Location | GenomicDNAa | cDNA | Predicted Consequence |
| Finnish patients with GRACILE syndrome: | |||||
| Missense | Homozygous | Exon 2 | 232A→G | 232A→G | S78G |
| British patient 1: | |||||
| Nonsense | Heterozygous | Exon 2 | 166C→T | 166C→T | R56STOP |
| Missense | Heterozygous | Exon 7 | 1986T→C | 980T→C | V327A |
| British patient 2: | |||||
| Pathogenicity not confirmed | Heterozygous | Intron 1 | −588T→A | … | ? |
| Splice site | Heterozygous | Intron 2, donor | 321G→T | … | Polypeptide truncation |
| British patient 3: | |||||
| Missense | Heterozygous | Exon 2 | 232A→G | 232A→G | S78G |
| Missense | Heterozygous | Exon 3 | 529G→A | 431G→A | R144Q |
Note.— Other nucleotide changes observed both in patients and control individuals include −376C→T in intron 1, which is a previously unknown SNP, and 1295T→C in intron 5, which is a known SNP in the NCBI database (rs#2303561).