#615426
Table of Contents
- Limited clinical information provided [UMLS: C4230773]
▼ TEXT
A number sign (#) is used with this entry because amyotrophic lateral sclerosis-19 (ALS20) is caused by heterozygous mutation in the HNRNPA1 gene (164017) on chromosome 12q13.
Mutation in the HNRNPA1 also causes a multisystem proteinopathy (IBMPFD3; 615424).
For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).
Kim et al. (2013) screened 212 familial ALS cases for sequence variants in the HNRNPA2B1 (600124) or HNRNPA1 (164017) genes. They identified 1 dominantly inherited case in which known ALS genes had been excluded with mutation in the HNRNPA1 gene (164017.0002). Kim et al. (2013) also screened 305 sporadic ALS cases and identified a nonsynonymous HNRNPA1 variant in an individual with classic, late-onset ALS (164017.0003).
▼ REFERENCES
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Kim, H. J., Kim, N. C., Wang, Y.-D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., and 25 others. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495: 467-473, 2013. [PubMed: 23455423, images, related citations] [Full Text]
# 615426
AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20
ORPHA: 803; DO: 0060211;
Phenotype-Gene Relationships
| Location | Phenotype | Phenotype MIM number |
Inheritance | Phenotype mapping key |
Gene/Locus | Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 12q13.13 | Amyotrophic lateral sclerosis 20 | 615426 | Autosomal dominant | 3 | HNRNPA1 | 164017 |
TEXT
A number sign (#) is used with this entry because amyotrophic lateral sclerosis-19 (ALS20) is caused by heterozygous mutation in the HNRNPA1 gene (164017) on chromosome 12q13.
Mutation in the HNRNPA1 also causes a multisystem proteinopathy (IBMPFD3; 615424).
For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).
Molecular Genetics
Kim et al. (2013) screened 212 familial ALS cases for sequence variants in the HNRNPA2B1 (600124) or HNRNPA1 (164017) genes. They identified 1 dominantly inherited case in which known ALS genes had been excluded with mutation in the HNRNPA1 gene (164017.0002). Kim et al. (2013) also screened 305 sporadic ALS cases and identified a nonsynonymous HNRNPA1 variant in an individual with classic, late-onset ALS (164017.0003).
REFERENCES
-
Kim, H. J., Kim, N. C., Wang, Y.-D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., and 25 others. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495: 467-473, 2013. [PubMed: 23455423] [Full Text: https://dx.doi.org/10.1038/nature11922]
alopez : 9/24/2013
alopez : 9/24/2013