Heterozygous pathogenic variants involving
genetic variation
human genetics
musculoskeletal diseases
phenotype
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
received:
29
06
2022
accepted:
03
09
2022
medline:
24
4
2023
pubmed:
15
10
2022
entrez:
14
10
2022
Statut:
ppublish
Résumé
Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short stature. Runt-related transcription factor 2 ( The cohort consists of eight subjects from five unrelated families partially identified through GeneMatcher. Exome or genome sequencing was applied and in two subjects the effect of the variant was investigated at RNA level. In each subject a heterozygous pathogenic variant in We confirm the previously suggested locus heterogeneity for CCD by identifying five pathogenic variants in
Sections du résumé
BACKGROUND
Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short stature. Runt-related transcription factor 2 (
METHODS
The cohort consists of eight subjects from five unrelated families partially identified through GeneMatcher. Exome or genome sequencing was applied and in two subjects the effect of the variant was investigated at RNA level.
RESULTS
In each subject a heterozygous pathogenic variant in
CONCLUSION
We confirm the previously suggested locus heterogeneity for CCD by identifying five pathogenic variants in
Identifiants
pubmed: 36241386
pii: jmg-2022-108739
doi: 10.1136/jmg-2022-108739
pmc: PMC10176335
doi:
Substances chimiques
CBFB protein, human
0
Codon, Nonsense
0
Core Binding Factor Alpha 1 Subunit
0
Core Binding Factor beta Subunit
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
498-504Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: AT and LBH are employees of GeneDx, Inc.
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