| Geno
|
Mag
|
Summary
|
| (A;A)
|
7.9
|
Amyotrophic lateral sclerosis, type 15
|
| (A;C)
|
7.9
|
Amyotrophic lateral sclerosis, type 15
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
7.9
|
Heterogenous neurodegeneration disorder
|
| (T;T)
|
7.9
|
Heterogeneous neurodegeneration disorder
|
Two causative, dominantly inherited mutations have been mapped to this location on the X chromosome:
- c.1490C>A, p.Pro497His, P497H: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
- c.1490C>T, p.Pro497Leu, P497L: Heterogeneous neurodegeneration; [PMID 24771548
]; news article about book by affected family here
Due to being X-linked, males carrying either mutation typically exhibit an earlier age of onset than females, and to some extent, more severe symptoms (and higher penetrance). However, UBQLN2 mutation status does not always predict clinical outcome; very delayed or incomplete penetrance of UBQLN2 mutations altering the PXX repeat domain is sometimes observed in mutation carriers.[PMID 21857683]
Note: to our knowledge, this SNP is not tested by the major "$99" direct-to-consumer genotyping companies such as Ancestry.com or 23andMe, however, it is normally included in exome data such as that from Genos.
]
