Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the
ABCD1 gene mutation
ALD
PGD
adrenoleukodystrophy
peroxisome disorder
preimplantation genetic diagnosis
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2021
2021
Historique:
received:
06
05
2021
accepted:
08
07
2021
entrez:
21
7
2021
pubmed:
22
7
2021
medline:
22
7
2021
Statut:
epublish
Résumé
Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. A heterozygous The established protocol for PGD of ALD detected mutant alleles in 5/8 embryos (62.5%), while the remaining 3 embryos (37.5%) did not carry any mutation. One of the 3 embryos was transferred, and a healthy female baby was born after a full-term pregnancy. The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of ALD but wish to have healthy children.
Sections du résumé
BACKGROUND
BACKGROUND
Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder.
MATERIAL AND METHODS
METHODS
A heterozygous
RESULTS
RESULTS
The established protocol for PGD of ALD detected mutant alleles in 5/8 embryos (62.5%), while the remaining 3 embryos (37.5%) did not carry any mutation. One of the 3 embryos was transferred, and a healthy female baby was born after a full-term pregnancy.
CONCLUSION
CONCLUSIONS
The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of ALD but wish to have healthy children.
Identifiants
pubmed: 34285547
doi: 10.2147/TACG.S318884
pii: 318884
pmc: PMC8286725
doi:
Types de publication
Journal Article
Langues
eng
Pagination
313-319Informations de copyright
© 2021 Trinh The et al.
Déclaration de conflit d'intérêts
The authors declared no potential conflicts of interest for this work nor the research, authorship, and publication of this article.
Références
JAMA Netw Open. 2020 Jan 3;3(1):e1920356
pubmed: 32003821
Int J Dev Neurosci. 2020 Feb;80(1):52-72
pubmed: 31909500
Hum Reprod. 2006 Jan;21(1):3-21
pubmed: 16172150
Endocr Rev. 2020 Aug 1;41(4):
pubmed: 32364223
Hum Mutat. 2001 Dec;18(6):499-515
pubmed: 11748843
Hum Reprod Update. 2002 Jan-Feb;8(1):11-20
pubmed: 11866237
Sci Rep. 2021 Jan 26;11(1):2192
pubmed: 33500543
Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14676-9
pubmed: 8962113
Brain. 2014 Mar;137(Pt 3):693-706
pubmed: 24480483
Gynecol Endocrinol. 2020 Jan;36(1):6-11
pubmed: 31317806
Nature. 1993 Feb 25;361(6414):726-30
pubmed: 8441467
Orphanet J Rare Dis. 2012 Aug 13;7:51
pubmed: 22889154
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066-70
pubmed: 6795626
Nature. 1990 Apr 19;344(6268):768-70
pubmed: 2330030
Reprod Biomed Online. 2015 Dec;31(6):770-5
pubmed: 26507283
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331
pubmed: 30289543
Hum Reprod Update. 2012 May-Jun;18(3):234-47
pubmed: 22343781
Pediatr Res. 1982 Mar;16(3):172-5
pubmed: 7063272
J Biol Chem. 2013 Jun 28;288(26):19269-79
pubmed: 23671276
Fertil Steril. 2008 Nov;90(5):2010.e1-3
pubmed: 18394607
J Neurol Sci. 2010 Mar 15;290(1-2):70-4
pubmed: 19945717
Sci Rep. 2018 Feb 16;8(1):3139
pubmed: 29453426
Clin Lab Med. 2016 Jun;36(2):385-99
pubmed: 27235919
J Inherit Metab Dis. 2021 May;44(3):728-739
pubmed: 33373467
Am J Obstet Gynecol. 2014 Feb;210(2):157.e1-6
pubmed: 24145186
Expert Rev Neurother. 2008 Sep;8(9):1367-79
pubmed: 18759549
Zhonghua Fu Chan Ke Za Zhi. 2008 Jan;43(1):25-8
pubmed: 18366928
Curr Protoc Mol Biol. 2018 Apr;122(1):e59
pubmed: 29851291
Appl Clin Genet. 2015 May 02;8:109-21
pubmed: 25999754
Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):9-13
pubmed: 19411132
J Genet Couns. 2016 Dec;25(6):1327-1337
pubmed: 27277129
Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6
pubmed: 21700483
Fertil Steril. 2007 Nov;88(5):1327-33
pubmed: 17498713
Ann Neurol. 2001 Apr;49(4):512-7
pubmed: 11310629
Hum Genet. 2004 Feb;114(3):298-305
pubmed: 14673643
FASEB J. 2008 Dec;22(12):4201-8
pubmed: 18757502
Prenat Diagn. 1996 Mar;16(3):259-61
pubmed: 8710781
Bratisl Lek Listy. 2015;116(9):542-6
pubmed: 26435019
Hum Reprod. 2013 Feb;28(2):509-18
pubmed: 23148203
Hum Reprod. 2012 Sep;27(9):2843-9
pubmed: 22736325
Methods Mol Biol. 2015;1347:1-14
pubmed: 26374306
Biochim Biophys Acta. 2012 Sep;1822(9):1475-88
pubmed: 22353463