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 (218, 245). |
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. |
245 | Amsterdam Leukodystrophy Center, Amsterdam UMC. Amsterdam UMC, the Netherlands. Dr. Marc Engelen Unpublished data |
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 | 2024-03-01