Identification of a New Genetic Mutation Associated With Peters Anomaly.
Journal
Cornea
ISSN: 1536-4798
Titre abrégé: Cornea
Pays: United States
ID NLM: 8216186
Informations de publication
Date de publication:
01 Mar 2021
01 Mar 2021
Historique:
received:
17
04
2020
accepted:
03
10
2020
pubmed:
8
12
2020
medline:
25
9
2021
entrez:
7
12
2020
Statut:
ppublish
Résumé
To report a new genetic mutation in the COL4A1 gene, which was identified in a baby girl with Peters anomaly (PA), a rare anterior segment mesenchymal dysgenesis, which is characterized by unilateral or bilateral corneal opacities often accompanied by glaucoma, cataract, and systemic malformations and associated with various genetic mutations. Ophthalmologic examination of one baby girl and whole exome sequencing and Sanger sequencing of blood samples of the child and her biological parents were performed. Ophthalmologic examination led to the diagnosis of PA type I in the baby girl. Whole exome sequencing and Sanger sequencing identified the de novo mutation c.181_189delinsAGGTTTCCG; p.Gly61Arg in the COL4A1 gene in the child, whereas no other putatively causative variants in established genes associated with anterior segment dysgenesis were present. PA might be associated with the mutation c.181_189delinsAGGTTTCCG; p.Gly61Arg in the COL4A1 gene. The COL4A1 gene encodes for collagen IVα1, an essential component of basal membranes, and mutations are associated with an increased risk for renal and cerebrovascular disorders and stroke. This should be considered when advising and monitoring patients.
Identifiants
pubmed: 33284162
pii: 00003226-202103000-00019
doi: 10.1097/ICO.0000000000002611
doi:
Substances chimiques
COL4A1 protein, human
0
Collagen Type IV
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
373-376Informations de copyright
Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors have no funding or conflicts of interest to disclose.
Références
Peters A. Über angeborene defektbildung der descemetschen membran. Klinische Monatsblatter Fuer Augenheilkunde. 1906;44:105–119.
Chang JW, Kim JH, Kim SJ, et al. Long-term clinical course and visual outcome associated with Peters' anomaly. Eye (Lond). 2012;26:1237–1242.
Bhandari R, Ferri S, Whittaker B, et al. Peters anomaly: review of the literature. Cornea. 2011;30:939–944.
Jian X, Boerwinkle E, Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 2014;42:13534–13544.
Glöckle N, Kohl S, Mohr J, et al. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet. 2014;22:99–104.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424.
gnomAD global population dataset. Available at: https://gnomad.broadinstitute.org/ . Accessed June 17, 2020.
Archive for human single nucleotide variations, microsatellites, and small-scale insertions and deletions. Available at: https://www.ncbi.nlm.nih.gov/snp/ . Accessed June 17, 2020.
Archive of reports of relationships among medically important variants and phenotypes. Available at: https://www.ncbi.nlm.nih.gov/clinvar/ . https://www.ncbi.nlm.nih.gov/clinvar/ . Accessed June 18, 2020.
Online Mendelian Inheritance in Man, OMIM, OMIM # 175780 [Database Online]. Baltimore, MD: Johns Hopkins University; Updated April 9, 2019.
Huang X, Xiao X, Jia X, et al. Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. Int J Mol Med. 2015;36:1111–1117.
Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696–704.
Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet. 2012;21:R97–R110.
Plaisier E, Ronco P. COL4A1-related disorders. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. Available at: http://www.ncbi.nlm.nih.gov/books/NBK7046/ . Accessed August 22, 2019.
Coupry I, Sibon I, Mortemousque B, et al. Ophthalmological features associated with COL4A1 mutations. Arch Ophthalmol. 2010;128:483–489.
Deml B, Reis LM, Maheshwari M, et al. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet. 2014;86:475–481.
Seifi M, Walter MA. Axenfeld–Rieger syndrome. Clin Genet. 2018;93:1123–1130.
Van Agtmael T, Schlötzer-Schrehardt U, McKie L, et al. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet. 2005;14:3161–3168.
Cvekl A, Tamm ER. Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays. 2004;26:374–386.
Nischal KK. Genetics of congenital corneal opacification: impact on diagnosis and treatment. Cornea. 2015;34(suppl 10):S24–S34.
Meuwissen ME, Halley DJ, Smit LS, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med. 2015;17:843–853.
Sibon I, Coupry I, Menegon P, et al. COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol. 2007;62:177–184.