Cockayne Syndrome, type B
| Disorder | |
|---|---|
| OMIM #: | #133540 (Click to access OMIM database) |
| Disorder: | Cockayne Syndrome, type B |
| Also known as: | |
| Clinical | |
| Phenotype: | short stature, dwarfism, failure to thrive, microcephaly, developmental delay, hydrocephalus, various calcifications, peripheral neuropathy, ataxia, hearing loss, premature aging, cataracts, retinitis pigmentosa, optic atrophy, other ocular defects, late eruption of teeth, hypodontia, arrhythmia, genitourinary anomalies, various skeletal defects, photosensitivity, other skin abnormalities, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| ReferencesXin B, Wang H. (2013) Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. Mol Syndromol Jan;3(6):288-90. PubMed ID: 23599700 1 Amish |
|
| Gene: | ERCC6 |
| Base Change: | c.2709+1G>T |
| Amino Acid Change: | splicing defect |
| 2 Amish | |
| Gene: | ERCC6 |
| Base Change: | c.1293_1320del28 |
| Amino Acid Change: | p.Glu432Lysfs*24 |
| 3 Old Order Mennonite | |
| Gene: | ERCC6 |
| Base Change: | c.2096dupC |
| Amino Acid Change: | p.Leu700Valfs*60 |
| Last updated: | 2022-11-05 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
| Xin B, Wang H. (2013) Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. Mol Syndromol Jan;3(6):288-90. PubMed ID: 23599700 |
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