Large deletions

November 6th, 2013 |

Deletions of one or more exons

Allele N ALDP Reference
0.5 kb in exon 1 1 ? 12
exon 1 partial deletion 1 ? 33
exon1-2del 1 ? 90
exon1-5del 2 ? 33, 49
exon2del 2 absent 18, 33
exon2-5del 1 absent 33
exon2-8del 1 absent 18
exon3-5del 2 absent 18, 33
exon3-6del 1 ? 33
exon3-7del 1 ? 33
exon3-10del 11 absent 12, 13, 29, 33, 88, 96
exon5del 1 ? 33
exon5-6del 1 absent 18
exon6del 1 ? 33
exon6-10del 4 ? 12, 33
exon7del 1 absent 58
exon7-9del 1 ? 24
exon7-10del 4 absent 13, 18, 58, 98
exon8-9del 1 absent 18
exon8-10del 6 ? 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. (?) = 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Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified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 Unpublished data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 Unpublished data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

afbeelding van de Engelse vlag English    afbeelding van de Nederlandse vlag Nederlands    afbeelding van de Franse vlag Français   afbeelding van de Spaanse vlag Español   afbeelding van de Duitse vlag Deutsch