Homozygosity for the c.428delG variant in
Abnormalities, Multiple
/ diagnosis
Adult
Alleles
Cell Cycle Proteins
/ genetics
Cerebellum
/ abnormalities
DNA Mutational Analysis
Eye Abnormalities
/ diagnosis
Female
Homozygote
Humans
Kidney Diseases, Cystic
/ diagnosis
Magnetic Resonance Imaging
Male
Middle Aged
Molar
/ pathology
Phenotype
Retina
/ abnormalities
Sequence Deletion
clinical genetics
joubert syndrome
kiaa0586
neurology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
04
05
2018
revised:
02
08
2018
accepted:
02
08
2018
pubmed:
19
8
2018
medline:
23
5
2020
entrez:
19
8
2018
Statut:
ppublish
Résumé
Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous mutations in the To clarify whether the frameshift variant c.428delG in Whole-exome sequencing as well as RNA analysis were performed. We identified biallelic mutations, including the variant c.428delG and a splice site variant c.1413-1G>C, in Considering this and the high allele frequency of 0.003117 in the gnomAD database, we conclude that c.428delG represents a JBTS disease-causing variant only if present in compound heterozygous state with a more severe
Sections du résumé
BACKGROUND
Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous mutations in the
OBJECTIVE
To clarify whether the frameshift variant c.428delG in
METHODS
Whole-exome sequencing as well as RNA analysis were performed.
RESULTS
We identified biallelic mutations, including the variant c.428delG and a splice site variant c.1413-1G>C, in
CONCLUSION
Considering this and the high allele frequency of 0.003117 in the gnomAD database, we conclude that c.428delG represents a JBTS disease-causing variant only if present in compound heterozygous state with a more severe
Identifiants
pubmed: 30120217
pii: jmedgenet-2018-105470
doi: 10.1136/jmedgenet-2018-105470
doi:
Substances chimiques
Cell Cycle Proteins
0
KIAA0586 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
261-264Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.