Mutations in
Adult
Alleles
Cataract
/ blood
Child
Child, Preschool
Chromosomes, Human, Pair 3
/ genetics
Codon, Nonsense
Consanguinity
Family
Female
Frameshift Mutation
Genes, Recessive
Genetic Linkage
Genetic Predisposition to Disease
Haplotypes
Homozygote
Humans
Infant
Male
Microsatellite Repeats
Microtubule-Associated Proteins
/ blood
Mutation, Missense
Pakistan
Pedigree
Phylogeny
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2020
2020
Historique:
received:
15
12
2019
accepted:
26
04
2020
entrez:
2
5
2020
pubmed:
2
5
2020
medline:
11
5
2021
Statut:
epublish
Résumé
This study was designed to identify the pathogenic variants in three consanguineous families with congenital cataracts segregating as a recessive trait. Consanguineous families with multiple individuals manifesting congenital cataracts were ascertained. All participating members underwent an ophthalmic examination. A small aliquot of the blood sample was collected from all participating individuals, and genomic DNAs were extracted. Homozygosity-based linkage analysis was performed using short tandem repeat (STR) markers. The haplotypes were constructed with alleles of the STR markers, and the two-point logarithm of odds (LOD) scores were calculated. The candidate gene was sequenced bidirectionally to identify the disease-causing mutations. Linkage analysis localized the disease interval to chromosome 3p in three families. Subsequently, bidirectional Sanger sequencing identified two novel mutations-a single base deletion resulting in a frameshift (c.3196delC; p.His1066IlefsTer10) mutation and a single base substitution resulting in a nonsense (c.4270C>T; p.Arg1424Ter) mutation-and a known missense (c.4127T>C, p.Leu1376Pro) mutation in We report two novel mutations and a previously reported mutation in
Substances chimiques
Codon, Nonsense
0
FYCO1 protein, human
0
Microtubule-Associated Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
334-344Subventions
Organisme : NEI NIH HHS
ID : R01 EY022714
Pays : United States
Informations de copyright
Copyright © 2020 Molecular Vision.
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