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 cases (12).
exon 1 partial deletion Pathogenic, identified in 2 ALD cases (33).
exon 1 partial – exon 2 Pathogenic, identified in a single ALD case (171).
exon1-2del Pathogenic, identified in a single ALD case (90).
exon1-5del Pathogenic, identified in 2 ALD cases (33, 49). No detectable ALDP in patient cells (33).
exon2del Pathogenic, identified in 5 ALD cases (18, 33, 88, 140, 227). No detectable ALDP in patient cells (58).
exon2-5del Pathogenic, identified in a single ALD case (33).
exon2-8del Pathogenic, identified in 3 ALD cases (18). No detectable ALDP in patient cells (58).
exon3-4del Pathogenic, identified in ALD newborn screening (294).
exon3-5del Pathogenic, identified in 6 ALD cases (18, 33, 120, 328).
exon3-6del Pathogenic, identified in a single ALD case (33).
exon3-7del Pathogenic, identified in a single ALD case (33).
exon3-10del Pathogenic, identified in 12 ALD cases (12, 13, 29, 33, 88, 191). No detectable ALDP in patient cells (33).
exon5del Pathogenic, identified in 3 ALD cases (33, 88, 143).
exon5-6del Pathogenic, identified in a single ALD case (18). No detectable ALDP in patient cells (58).
exon6del Pathogenic, identified in a single ALD case (33).
exon6-9del Pathogenic, identified in 2 ALD cases (32, 218).
exon6-10del Pathogenic, identified in 10 ALD cases (12, 24, 33, 187, 191, 273, 284, 289, 328).
exon7del Pathogenic, identified in a single ALD case (328).
exon7-9del Pathogenic, identified in a single ALD case (24).
exon7-10del Pathogenic, identified in 17 ALD cases (13, 18, 22, 98, 238, 292). No detectable ALDP in patient cells (22).
exon8-9del Pathogenic, identified in 2 ALD cases (18, 302). No detectable ALDP in patient cells (58).
exon8-10del Pathogenic, identified in 21 ALD cases (13, 32, 33, 88, 98, 141, 200, 252). No detectable ALDP in patient cells (141).
exon10del Pathogenic, identified in a single ALD case (289, 312).
multiple exons Pathogenic, identified in a single ALD case (23).

Legend: Variants are arranged according to their nucleotide position. All variants (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 variant is indicated. In case additional experimental proof with respect to the effect of the variant on the ALD protein (ALDP) is available references are provided.
Note: unpublished variants (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 variants.
Because ABCD1 variants 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, Amsterdam UMC, The Netherlands. Contact person: Dr. S. Kemp (e-mail: s.kemp@amsterdamumc.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
200 Weill Cornell Leukodystrophy Clinic/NY-Presbyterian Hospital, Eric Mallack, MD, MBE (ejm9009@med.cornell.edu). Unpublished data
218 Huffnagel et al. (2019) Orphanet J Rare Dis. 14(1):30.
238 Lee et al (2020) JAMA Network Open. 3;3(1):e1920356.
252 Bianchi-Marzoli et al (2020) Neurol Sci. doi: 10.1007/s10072-020-04576-2.
273 Knuutinen et al (2021) Dev Med Child Neurol. doi: 10.1111/dmcn.14884
284 Blood and Marrow Transplant Program, University of Minnesota Medical School, Minneapolis, USA. Dr. Troy Lund. Unpublished data.
289 Liu et al (2021) Mol Genet Genomic Med:e1844
292 Mao et al (2022) Neurol Sci (Online ahead of print).
294 Priestley et al (2022) Int. J. Neonatal Screen. 8:24.
302 Chen et al Mol Genet Metab Rep. 2022 Jul 28;32:100902
312 Taiwan newborn screening program. National Taiwan University Hospital, Taipei (Taiwan). Contact person: Dr. Yin-Hsiu Chien. Unpublished data

Last modified | 2024-02-05