Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, developmental delay/mental retardation, premature aging, cataracts 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

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.E432Kfs*24
3   Old Order Mennonite  
Gene: ERCC6
Base Change: c.2096dupC
Amino Acid Change: p.L700Vfs*60
Last updated: 2019-12-20 

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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