Large deletions

April 7th, 2016 |

Deletions of one or more exons

Allele N ALDP Reference
0.5 kb in exon 1 1 n.d. 12
exon 1 partial deletion 2 n.d. 33
exon1-2del 1 n.d. 90
exon1-5del 2 n.d. 33, 49
exon2del 4 absent 18, 33, 134
exon2-5del 2 absent 33, 120
exon2-8del 1 absent 18
exon3-5del 2 absent 18, 33
exon3-6del 1 n.d. 33
exon3-7del 1 n.d. 33
exon3-10del 11 absent 12, 13, 29, 33, 88, 96
exon5del 2 n.d. 33, 134
exon5-6del 1 absent 18
exon6del 1 n.d. 33
exon6-10del 5 n.d. 12, 33
exon7del 1 absent 58
exon7-9del 1 n.d. 24
exon7-10del 4 absent 13, 18, 58, 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 effect of the mutation on the ALD protein assessed in fibroblasts by immunofluorescence and /or protein blot analysis. (n.d.) = unknown, 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Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified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 Unpublished data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 Johns Hopkins DNA Diagnostic Lab, Institute of Genetic Medicine, Baltimore, MD, USA. Contact person: Dr. S.J.S. Steinberg (e-mail: S.J.Steinberg [at_symbol] jhmi.edu). Unpublished data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
120 Jiang et al (2015) Metab Brain Dis
134 Shimozawa et al (2011) J Hum Genet

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