Recurrent
Adult
Aniridia
/ genetics
Asian People
/ genetics
Cataract
/ genetics
Child
Child, Preschool
China
/ epidemiology
Female
Frameshift Mutation
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability
/ genetics
Male
PAX6 Transcription Factor
/ genetics
Pedigree
Polymorphism, Single Nucleotide
Recurrence
Tomography, Optical Coherence
Exome Sequencing
PAX 6
congenital aniridia
mental retardation
progressive cataract
Journal
European journal of ophthalmology
ISSN: 1724-6016
Titre abrégé: Eur J Ophthalmol
Pays: United States
ID NLM: 9110772
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
pubmed:
15
11
2018
medline:
15
2
2020
entrez:
15
11
2018
Statut:
ppublish
Résumé
One prominent pathological feature of congenital aniridia is hypoplasia of the iris, often accompanied by other eye abnormalities. The objective of this study is to identify gene mutations responsible for autosomal dominance in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. A total of 11 family members, including 6 affected and 5 unaffected individuals were recruited. Whole exome sequencing was performed on the proband and Sanger sequencing was applied to identify the causal mutation in the other family members and control samples. A heterozygous mutation, c. 112delC (p. Arg38fs) in These results provided a new insight into the effects of
Sections du résumé
BACKGROUND
BACKGROUND
One prominent pathological feature of congenital aniridia is hypoplasia of the iris, often accompanied by other eye abnormalities. The objective of this study is to identify gene mutations responsible for autosomal dominance in a Chinese family with congenital aniridia, progressive cataracts and mental retardation.
METHODS
METHODS
A total of 11 family members, including 6 affected and 5 unaffected individuals were recruited. Whole exome sequencing was performed on the proband and Sanger sequencing was applied to identify the causal mutation in the other family members and control samples.
RESULTS
RESULTS
A heterozygous mutation, c. 112delC (p. Arg38fs) in
CONCLUSION
CONCLUSIONS
These results provided a new insight into the effects of
Identifiants
pubmed: 30426773
doi: 10.1177/1120672118810998
doi:
Substances chimiques
PAX6 Transcription Factor
0
PAX6 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM