Novel Homozygous Mutations in the Genes
Adult
Case-Control Studies
Child
Consanguinity
Female
Filaggrin Proteins
Genetic Predisposition to Disease
Homozygote
Humans
Ichthyosis
/ genetics
Male
Mutation
Pakistan
Pedigree
Phenotype
S100 Proteins
/ genetics
Serine Peptidase Inhibitor Kazal-Type 5
/ genetics
Sulfotransferases
/ genetics
Transglutaminases
/ genetics
Exome Sequencing
TGM1 and SPINK5
ichthyosis
splice site variant
whole exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
05 03 2021
05 03 2021
Historique:
received:
19
01
2021
revised:
24
02
2021
accepted:
26
02
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
4
8
2021
Statut:
epublish
Résumé
Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word "ichthys" meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. There are many varieties of ichthyosis with a broad spectrum of intensity, severity, and associated symptoms, most of them are extremely rare. Ichthyosis vulgaris is the most frequently occurring type of ichthyoses. The present study consists of four Pakistani ichthyosis families (A, B, C, and D). Whole exome sequencing (WES) approach was used to identify the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Total four variants including, two splice site ( Our study unravels the molecular etiology of the four Pakistani ichthyosis families and validates the involvement of
Sections du résumé
BACKGROUND
Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word "ichthys" meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. There are many varieties of ichthyosis with a broad spectrum of intensity, severity, and associated symptoms, most of them are extremely rare. Ichthyosis vulgaris is the most frequently occurring type of ichthyoses.
METHOD
The present study consists of four Pakistani ichthyosis families (A, B, C, and D). Whole exome sequencing (WES) approach was used to identify the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing.
RESULTS
Total four variants including, two splice site (
CONCLUSION
Our study unravels the molecular etiology of the four Pakistani ichthyosis families and validates the involvement of
Identifiants
pubmed: 33807935
pii: genes12030373
doi: 10.3390/genes12030373
pmc: PMC7999895
pii:
doi:
Substances chimiques
FLG protein, human
0
Filaggrin Proteins
0
S100 Proteins
0
SPINK5 protein, human
0
Serine Peptidase Inhibitor Kazal-Type 5
0
Transglutaminases
EC 2.3.2.13
transglutaminase 1
EC 2.3.2.13
Sulfotransferases
EC 2.8.2.-
SULT2B1 protein, human
EC 2.8.2.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Methods Mol Biol. 2021;2199:239-255
pubmed: 33125654
Prenat Diagn. 2000 Feb;20(2):132-7
pubmed: 10694685
J Dermatol. 2015 Sep;42(9):867-73
pubmed: 25997159
Am J Clin Dermatol. 2018 Feb;19(1):51-66
pubmed: 28815464
J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25
pubmed: 31642606
Balkan J Med Genet. 2020 Aug 26;23(1):91-94
pubmed: 32953415
Prenat Diagn. 1997 May;17(5):483-6
pubmed: 9178327
J Allergy Clin Immunol. 2009 Sep;124(3):536-43
pubmed: 19683336
J Biol Chem. 1995 Nov 3;270(44):26382-90
pubmed: 7592852
Am J Hum Genet. 2017 Jun 1;100(6):926-939
pubmed: 28575648
Br J Dermatol. 2005 Sep;153(3):661-3
pubmed: 16120162
Prostate. 2007 Sep 1;67(12):1318-29
pubmed: 17626250
Am J Clin Dermatol. 2009;10(6):351-64
pubmed: 19824737
Nucleic Acids Res. 2019 Jul 2;47(W1):W99-W105
pubmed: 31114901
Int J Dermatol. 2012 Apr;51(4):427-30
pubmed: 22435431
Proc Natl Acad Sci U S A. 1998 Feb 3;95(3):1044-9
pubmed: 9448282
PLoS One. 2017 Dec 27;12(12):e0190077
pubmed: 29281699
Adv Dermatol. 2007;23:231-56
pubmed: 18159904
Diagnostics (Basel). 2020 Nov 24;10(12):
pubmed: 33255364
J Clin Invest. 2002 Jan;109(2):243-50
pubmed: 11805136
J Biol Chem. 2005 Apr 29;280(17):17339-45
pubmed: 15728184
J Eur Acad Dermatol Venereol. 2013 Dec;27(12):1552-8
pubmed: 23297869
J Invest Dermatol. 2006 Jul;126(7):1609-21
pubmed: 16601670
Eur J Hum Genet. 2013 Feb;21(2):123-33
pubmed: 22739337
J Biol Chem. 2003 Nov 7;278(45):44593-9
pubmed: 12923182
J Biol Chem. 1997 May 2;272(18):12035-46
pubmed: 9115270
Turk J Pediatr. 2019;61(4):604-607
pubmed: 31990481
Acta Derm Venereol. 2020 Oct 6;100(17):adv00285
pubmed: 32965503
J Am Acad Dermatol. 2010 Oct;63(4):607-41
pubmed: 20643494
J Invest Dermatol. 2009 Jun;129(6):1319-21
pubmed: 19434086
Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8402-7
pubmed: 10411887
Eur J Med Genet. 2018 Apr;61(4):204-208
pubmed: 29223505
Science. 2015 Jan 9;347(6218):1254806
pubmed: 25525159
Hum Mutat. 2019 Mar;40(3):288-298
pubmed: 30578701
J Biol Chem. 1992 Apr 15;267(11):7710-7
pubmed: 1348508
Hum Genet. 2020 Oct;139(10):1197-1207
pubmed: 32596782
J Med Genet. 2009 Feb;46(2):103-11
pubmed: 18948357
Front Pediatr. 2019 Feb 21;7:44
pubmed: 30847336
Hum Mol Genet. 2013 Dec 20;22(25):5199-214
pubmed: 23918663
Nat Rev Mol Cell Biol. 2004 Feb;5(2):89-99
pubmed: 15040442
Nat Genet. 2000 Jun;25(2):141-2
pubmed: 10835624
Postepy Dermatol Alergol. 2018 Apr;35(2):161-166
pubmed: 29760616
J Dermatol. 2018 Dec;45(12):1463-1467
pubmed: 30302839
Nat Rev Genet. 2020 Aug;21(8):448
pubmed: 32488197