Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
29 09 2021
29 09 2021
Historique:
received:
22
02
2021
accepted:
06
09
2021
entrez:
30
9
2021
pubmed:
1
10
2021
medline:
25
12
2021
Statut:
epublish
Résumé
Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or syndromic IRD, we identified 17 distinct genomic variants in 11 previously-reported disease genes. Consistent with a recessive inheritance pattern, as suggested by pedigrees, variants discovered in our study were exclusively bi-allelic and mostly in a homozygous state (in 15 families out of 17, or 88%). Out of the 17 variants identified, 5 (29%) were never reported before. Interestingly, two mutations (GUCY2D:c.564dup, p.Ala189ArgfsTer130 and TULP1:c.1199G > A, p.Arg400Gln) were also identified in four separate pedigrees (two pedigrees each). In addition to expanding the mutational spectrum of IRDs, our findings confirm that the traditional practice of endogamy in the Iranian population is a prime cause for the appearance of IRDs.
Identifiants
pubmed: 34588515
doi: 10.1038/s41598-021-98677-3
pii: 10.1038/s41598-021-98677-3
pmc: PMC8481312
doi:
Substances chimiques
Eye Proteins
0
Receptors, Cell Surface
0
TULP1 protein, human
0
guanylate cyclase 1
0
Guanylate Cyclase
EC 4.6.1.2
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
19332Informations de copyright
© 2021. The Author(s).
Références
Hum Mutat. 2018 Jan;39(1):61-68
pubmed: 28967166
Nucleic Acids Res. 2014 Dec 16;42(22):13534-44
pubmed: 25416802
Hum Mutat. 2020 Sep;41(9):1514-1527
pubmed: 32531858
Invest Ophthalmol Vis Sci. 2014 Feb 24;55(2):1149-60
pubmed: 24474277
Hum Mol Genet. 2005 Dec 15;14(24):3865-75
pubmed: 16269441
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Mol Vis. 2019 Feb 08;25:106-117
pubmed: 30820146
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
PLoS One. 2015 Mar 16;10(3):e0119806
pubmed: 25775262
Eur J Hum Genet. 2015 Oct;23(10):1318-27
pubmed: 25649381
Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2710-2716
pubmed: 31964843
Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238
pubmed: 28418496
Genes (Basel). 2019 Dec 21;11(1):
pubmed: 31877759
Hum Genet. 2014 Mar;133(3):331-45
pubmed: 24154662
Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1779-86
pubmed: 19805052
Sci Rep. 2015 Nov 24;5:17154
pubmed: 26598328
Hum Mutat. 2020 Jan;41(1):140-149
pubmed: 31456290
J Med Genet. 2016 Nov;53(11):761-767
pubmed: 27208204
J Comput Biol. 2004;11(2-3):377-94
pubmed: 15285897
Iran J Med Sci. 2020 Mar;45(2):118-124
pubmed: 32210488
Bioinformatics. 2005 Apr 15;21(8):1730-2
pubmed: 15377505
Am J Hum Genet. 2004 Oct;75(4):639-46
pubmed: 15322982
Genome Res. 2009 Sep;19(9):1553-61
pubmed: 19602639
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Bioinformatics. 2015 Aug 15;31(16):2745-7
pubmed: 25851949
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Cell. 2019 Jan 24;176(3):535-548.e24
pubmed: 30661751
Nat Genet. 1998 Jul;19(3):257-9
pubmed: 9662398
Hum Hered. 2014;77(1-4):16-25
pubmed: 25060266
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7
pubmed: 22689647
Orphanet J Rare Dis. 2020 Jan 14;15(1):14
pubmed: 31937337
Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9
pubmed: 20881296
Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4065-71
pubmed: 19339744
Lancet. 2006 Nov 18;368(9549):1795-809
pubmed: 17113430
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Am J Hum Genet. 2001 Oct;69(4):722-37
pubmed: 11536077
Hum Mutat. 2004 Apr;23(4):306-17
pubmed: 15024725
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Br J Ophthalmol. 2021 Feb 12;:
pubmed: 33579689
Nat Commun. 2021 Jan 22;12(1):518
pubmed: 33483490
Hum Mutat. 2003 Jun;21(6):577-81
pubmed: 12754702
Hum Genet. 2013 Nov;132(11):1197-211
pubmed: 23907654
Nat Genet. 2012 Sep;44(9):1040-5
pubmed: 22842227
J Hum Genet. 2014 Jul;59(7):368-75
pubmed: 24849935
Mol Vis. 2018 Oct 19;24:679-689
pubmed: 30416334
Iran Biomed J. ;21(5):294-302
pubmed: 28460491
Genet Med. 2019 Apr;21(4):982-986
pubmed: 30279471
Int J Pediatr Otorhinolaryngol. 2014 Nov;78(11):1828-32
pubmed: 25239229
Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8479-87
pubmed: 21911583
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Hum Mutat. 2011 Jun;32(6):610-9
pubmed: 21344540
Nat Rev Genet. 2010 Apr;11(4):273-84
pubmed: 20212494
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669