Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel
Journal
Journal of ophthalmology
ISSN: 2090-004X
Titre abrégé: J Ophthalmol
Pays: United States
ID NLM: 101524199
Informations de publication
Date de publication:
2020
2020
Historique:
received:
23
10
2019
revised:
29
01
2020
accepted:
14
02
2020
entrez:
27
5
2020
pubmed:
27
5
2020
medline:
27
5
2020
Statut:
epublish
Résumé
The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family. We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband). DNA of subjects with nanophthalmos was analysed by exome sequencing. Sanger sequencing was applied for targeted screening of potentially pathogenic variants and to follow segregation of identified variants within the family. A homozygous variant c.1509G>C; p.(Met503Ile), in Herein, we report the first occurrence of nanophthalmos in the Roma population. We have identified pseudodominant inheritance for this phenotype caused by a novel variant in
Sections du résumé
BACKGROUND
BACKGROUND
The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family.
METHODS
METHODS
We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband). DNA of subjects with nanophthalmos was analysed by exome sequencing. Sanger sequencing was applied for targeted screening of potentially pathogenic variants and to follow segregation of identified variants within the family.
RESULTS
RESULTS
A homozygous variant c.1509G>C; p.(Met503Ile), in
CONCLUSIONS
CONCLUSIONS
Herein, we report the first occurrence of nanophthalmos in the Roma population. We have identified pseudodominant inheritance for this phenotype caused by a novel variant in
Identifiants
pubmed: 32454992
doi: 10.1155/2020/6807809
pmc: PMC7212339
doi:
Types de publication
Journal Article
Langues
eng
Pagination
6807809Informations de copyright
Copyright © 2020 Lubica Dudakova et al.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
Ophthalmology. 2013 Aug;120(8):1656-64
pubmed: 23697957
Bioessays. 2005 Oct;27(10):1084-94
pubmed: 16163730
JAMA Ophthalmol. 2014 Aug;132(8):970-7
pubmed: 24852644
Eur J Hum Genet. 1999 Jul;7(5):560-6
pubmed: 10439962
Orphanet J Rare Dis. 2014 Apr 01;9:46
pubmed: 24690360
Am J Hum Genet. 2004 Oct;75(4):596-609
pubmed: 15322984
Gene. 2013 Oct 10;528(2):288-94
pubmed: 23820083
Genet Med. 2016 Nov;18(11):1165
pubmed: 26986878
Am J Hum Genet. 2011 Mar 11;88(3):382-90
pubmed: 21397065
J Forensic Leg Med. 2017 May;48:46-52
pubmed: 28454050
PLoS Genet. 2019 May 2;15(5):e1008130
pubmed: 31048900
Brief Bioinform. 2013 Mar;14(2):178-92
pubmed: 22517427
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Behav Neurol. 2015;2015:639539
pubmed: 26060356
Nat Genet. 2003 Oct;35(2):185-9
pubmed: 14517542
Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2904-2913
pubmed: 31266062
J Mol Biol. 2000 Sep 8;302(1):205-17
pubmed: 10964570
Genetics. 2008 Nov;180(3):1609-16
pubmed: 18791257
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Ophthalmology. 2019 Jun;126(6):888-907
pubmed: 30653986
J Biol Chem. 1994 Oct 21;269(42):26243-8
pubmed: 7929341
Hum Genet. 2008 Jan;122(6):589-93
pubmed: 17924146
Int Ophthalmol. 2013 Dec;33(6):621-6
pubmed: 23456513
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Clin Diagn Res. 2013 Oct;7(10):2211-2
pubmed: 24298478
Am J Ophthalmol. 2012 Jun;153(6):1161-8.e1
pubmed: 22365256
Eye (Lond). 2016 Jan;30(1):120-6
pubmed: 26493039
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
PLoS One. 2014 Oct 30;9(10):e110299
pubmed: 25357075
Am J Ophthalmol. 2013 Feb;155(2):361-372.e7
pubmed: 23127749
Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9553-8
pubmed: 15976030
J Ophthalmol. 2018 May 9;2018:2735465
pubmed: 29862063
J Cataract Refract Surg. 2013 Nov;39(11):1707-12
pubmed: 24054966
Ann Neurol. 1999 Jun;45(6):742-50
pubmed: 10360766