Background
Methods
Subjects
DNA isolation and DNA sequencing
Exon | Sense primer | Anti-sense primer | Amplicon size (bp) |
---|---|---|---|
GLA-E1 | 5’ CGTGACTGATTATTGGTCTACCTCTG 3’ | 5’ CGTTGAGACTCTCCAGTTCCCC 3’ | 433 |
GLA-E2 | 5’ TAACGGGATAAGAGAGACAAAAGAAA 3’ | 5’ AACTCTTGACCTCAGGTGATCCA 3’ | 521 |
GLA-E3 | 5’ AATACCTGGTGAAGTAACCTTGTCTC 3’ | 5’ CTTTCCTTTGTGGCTAAATCTCTG 3’ | 329 |
GLA-E4 | 5’ CCCTGGATGACAGACTGAACCC 3’ | 5’ GGAGACCTTGGTTTCCTTTGTTGT 3’ | 293 |
GLA-E5 | 5’ TCAATCTGTAAACTCAAGAGAAGGC 3’ | 5’ TCACATAAAGCCTCCTCCCAG 3’ | 375 |
GLA-E6 | 5’ CAGGATGCTGTGGAAAGTGGT 3’ | 5’ AAGCACTTGTAGGAAAAATTAAAATGA 3’ | 480 |
GLA-E7 | 5’ TTTTTCCTACAAGTGCTTGATAGTTCT 3’ | 5’ ACCTCAGGTGATCTGCCCG 3’ | 529 |
Bioinformatics analysis
Site-directed mutagenesis of p.Asn278Lys in the GLA gene
In vitro functional analysis of the p.Asn278Lys mutation in the GLA gene
Statistical analysis
Results
Clinical findings
Patients enrolled in this study | |||||||
---|---|---|---|---|---|---|---|
II: 3 | II: 7 | II: 10 | II: 11 | III: 12 | III: 14 | IV: 5 | |
Age (y) | 65 | 58 | 54 | 50 | 40 | 36 | 12 |
Sex | male | male | female | male | female | female | male |
Neurological symptoms | |||||||
Neuropathic pain |
√
|
√
| / |
√
| / | / | / |
Acroparaesthesia |
√
|
√
| / |
√
| / | / |
√
|
Heat or cold intolerance | / | / | / | / | / | / | / |
Fever crisis | / | / | / | / | / | / | / |
Strokes |
√
| / | / | / | / | / | / |
Seizures | / | / | / | / | / | / | / |
Tegumentary symptoms | |||||||
Angiokeratoma |
√
|
√
| / |
√
| / | / | / |
Hypohidrosis |
√
|
√
| / |
√
| / | / |
√
|
Kidney symptoms | |||||||
Chronic renal dysfunction |
√
|
√
|
√
|
√
|
√
|
√
| / |
Dialysis | / |
√
| / |
√
| / | / | / |
Haematuria | / | N | N | N | N | N | N |
Proteinuria |
√
| N | N | N | N | N | N |
Cardiovascular symptoms | |||||||
Chest Pain |
√
|
√
|
√
|
√
|
√
|
√
| / |
Dyspnoea | √ |
√
| / |
√
|
√
| / | / |
Syncope | / | / | / | / | / | / | / |
Hypertension | / |
√
| / | / | / | / | / |
Left ventricular hypertrophy | √ | N | N | N | N | N | N |
Ophthalmologic symptoms | |||||||
Corneal opacities | / | / | / | / | / | / | / |
Gastrointestinal symptoms | |||||||
Nauseas |
√
|
√
|
√
|
√
|
√
|
√
|
√
|
Abdominal Pain |
√
|
√
| / |
√
| / | / |
√
|
Chronic diarrhoea |
√
|
√
|
√
|
√
|
√
|
√
|
√
|
Metabolic symptoms | |||||||
Dyslipidaemia | / | / | / | / | / | / | / |
Genotype of p. Asn278Lys site | XbY | XbY | XBXb | XbY | XBXb | XBXb | XbY |