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Andersen-Tawil syndrome
- Source :
- European journal of medical genetics, 65(1):104382. Elsevier Masson SAS, European Journal of Medical Genetics, 65(1). ELSEVIER
- Publication Year :
- 2022
- Publisher :
- ELSEVIER, 2022.
-
Abstract
- Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found and a pathogenic variant in KCNJ2 (c.653G > C, p.(Arg218Pro)) was demonstrated. Because of manifestations typical for NS and previously not described in ATS (broad neck, low hairline and pectus excavatum), this may indicate there is a phenotypical overlap between ATS and NS, although we cannot exclude that the patient has an additional, hitherto undetected variant in another gene that explains the NS features. Further studies into a functional relation between KCNJ2 and the RAS/MAPK pathway are needed to determine this further.
- Subjects :
- Male
Adolescent
Andersen Tawil syndrome
Functional relation
Andersen–Tawil syndrome
Pectus excavatum
Genetics
medicine
Humans
Noonan syndrome
Potassium Channels, Inwardly Rectifying
KCNJ2
Genetics (clinical)
Andersen Syndrome
business.industry
MAPK pathway
General Medicine
medicine.disease
Phenotype
Skeleton (computer programming)
Mutation
RAS/MAPK pathway
business
RAS
Subjects
Details
- Language :
- English
- ISSN :
- 17697212
- Database :
- OpenAIRE
- Journal :
- European journal of medical genetics, 65(1):104382. Elsevier Masson SAS, European Journal of Medical Genetics, 65(1). ELSEVIER
- Accession number :
- edsair.doi.dedup.....bba3203d2f434054f1ea6a48d00df6bb