Large deletions
November 20th, 2012 |Deletions of one or more exons
| Allele | N | ALDP | Reference |
|---|---|---|---|
| 0.5 kb in exon 1 | 1 | n.d. | 12 |
| exon 1 partial deletion | 1 | n.d. | 33 |
| exon1-5del | 1 | n.d. | 49 |
| exon2del | 1 | absent | 18 |
| exon2-5del | 1 | absent | 33 |
| exon2-7del | 1 | absent | 18 |
| exon2-10del | 1 | n.d. | 90 |
| exon3-5del | 2 | absent | 18, 23 |
| exon3-6del | 1 | n.d. | 33 |
| exon3-7del | 1 | n.d. | 33 |
| exon3-10del | 11 | absent | 12, 13, 29, 33, 88, 96 |
| exon5del | 1 | n.d. | 33 |
| exon6del | 1 | n.d. | 33 |
| exon6-10del | 3 | n.d. | 12, 33 |
| exon7-9del | 1 | n.d. | 24 |
| exon7-10del | 3 | absent | 13, 18,98 |
| exon8-9del | 1 | absent | 18 |
| exon8-10del | 6 | n.d. | 13, 32, 33, 88,98 |
| multiple exons | 1 | absent | 23 |
Legend: The column headed ALDP indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and /or immunoblotting. (n.d.) = no data provided.
Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified these mutations.
References
| 12 | Koike et al. Hum Mutat 1995;6(3):263-7 |
| 13 | Kok et al. Hum Mutat 1995;6(2):104-15 |
| 18 | Mosser et al. Nature 1993;361(6414):726-30 |
| 23 | Yasutake et al. J Neurol Sci 1995;131(1):58-64 |
| 24 | Takano et al. Arch Neurol 1999;56(3):295-300 |
| 29 | Lachtermacher et al. Hum Mutat 15:348-53 |
| 32 | J. Haasjes & P.A.W. Mooijer. Lab. Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands. Contact person: Dr. H.R. Waterham (e-mail h.r.waterham [at_symbol] amc.uva.nl). Unpublished data |
| 33 | The Peroxisomal Diseases Laboratory, The Kennedy Krieger Institute, Baltimore, MD, USA. Contact person: Dr. S.J.S. Steinberg (e-mail steinbergs [at_symbol] kennedykrieger.org). Unpublished data |
| 49 | Kemp et al., (2001) Hum Mutat 18(6):499-515 |
| 88 | Shimozawa et al (2010) J Hum Genet |
| 90 | Matsukawa et al (2010) Neurogenetics |
| 96 | Wang et al (2011) Mol Genet Metab |
