Large deletions

Deletions of one or more exons

Variant Reference
Combined deletion of BCAP31 and ABCD1 “Contiguous ABCD1 DXS1357E deletion syndrome” (CADDS). First described by Corzo et al. in 2002. The combined deletion of the BCAP31 and ABCD1 genes results in clinical symptoms and initial biochemical results that are consistent with a peroxisomal biogenesis disorder (PBD).
0.5 kb in exon 1 Pathogenic, identified in 2 ALD patients (12).
exon 1 partial deletion Pathogenic, identified in 2 ALD patients (33).
exon 1 partial – exon 2 Pathogenic, identified in ALD patient (171).
exon1-2del Pathogenic, identified in ALD patient (90).
exon1-5del Pathogenic, identified in 2 ALD patients (33, 49). No detectable ALDP in patient cells (33).
exon2del Pathogenic, identified in 4 ALD patients (18, 33, 88, 140). No detectable ALDP in patient cells (58).
exon2-5del Pathogenic, identified in ALD patient (33).
exon2-8del Pathogenic, identified in 3 ALD patients (18). No detectable ALDP in patient cells (58).
exon3-5del Pathogenic, identified in 5 ALD patients (18, 33, 120).
exon3-6del Pathogenic, identified in ALD patient (33).
exon3-7del Pathogenic, identified in ALD patient (33).
exon3-10del Pathogenic, identified in 12 ALD patients (12, 13, 29, 33, 88, 191). No detectable ALDP in patient cells (33).
exon5del Pathogenic, identified in 3 ALD patients (33, 88, 143).
exon5-6del Pathogenic, identified in ALD patient (18). No detectable ALDP in patient cells (58).
exon6del Pathogenic, identified in ALD patient (33).
exon6-9del Pathogenic, identified in 2 ALD patients (32).
exon6-10del Pathogenic, identified in 6 ALD patients (12, 24, 33, 187, 191).
exon7-9del Pathogenic, identified in ALD patient (24).
exon7-10del Pathogenic, identified in 15 ALD patients (13, 18, 22, 98). No detectable ALDP in patient cells (22).
exon8-9del Pathogenic, identified in ALD patient (18). No detectable ALDP in patient cells (58).
exon8-10del Pathogenic, identified in 19 ALD patients (13, 32, 33, 88, 98, 141). No detectable ALDP in patient cells (141).
multiple exons Pathogenic, identified in ALD patient (23).

Legend: Mutations are arranged according to their nucleotide position. All mutations (including those that have been published in the past) are annotated using Alamut software using transcript NM_000033.3 on GRCh37 (hg19) as reference sequence. The number of clinically/biochemically affected ALD patients that have been reported/identified for each mutation is indicated. In case additional experimental proof with respect to the effect of the mutation on the ALD protein (ALDP) is available references are 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.
Because ABCD1 mutations have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided.

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
22 Watkins et al. Am J Hum Genet 1995;57(2):292-301
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 Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands. Contact person: Dr. H.R. Waterham (e-mail: h.r.waterham@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@jhmi.edu). Unpublished data
49 Kemp et al., (2001) Hum Mutat 18(6):499-515
58 Pitié-Salpétrière Hospital (Biochemistry Department) and Hôpital Saint-Vincent de Paul (Service Pédiatrie C, Inserm U561) Paris, France. Contact persons: Prof. Bernard Hainque (e-mail: bernard.hainque@psl.ap-hop-paris.fr) and Prof. Patrick Aubourg (e-mail: patrick.aubourg@inserm.fr) Unpublished data
88 Shimozawa et al (2010) J Hum Genet
90 Matsukawa et al (2010) Neurogenetics
98 Salsano et al. (2012) Orphanet J Rare Dis 7:10.
120 Jiang et al (2015) Metab Brain Dis
140 Kallabi et al (2016) Biochem Cell Biol
141 Engelen et al. (2014) Brain 137(Pt 3):693-706.
143 Green et al. (2016) Pract Neurol 17(1):71-73.
171 Schonberger et al. (2007) Arch Neurol. 64(5):651-7.
187 Turco et al. (2017) Brain Dev. S0387-7604(17)30271

Last modified | 2017-12-15