Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C
- Resource Type
- Authors
- Antoine Leenhardt; Cindy Colson; Hervé Mittre; Adeline Busson; Yann Troadec; Isabelle Denjoy; Véronique Fressard
- Source
- European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62 (7), pp.103648. ⟨10.1016/j.ejmg.2019.04.005⟩
- Subject
- MESH: Plakophilins
Timothy syndrome
c.1220A>C
030204 cardiovascular system & hematology
medicine.disease_cause
PKP2
0302 clinical medicine
Missense mutation
Genetics (clinical)
Exome sequencing
MESH: Heterozygote
Genetics
0303 health sciences
Mutation
MESH: Calcium Channels, L-Type
General Medicine
Phenotype
3. Good health
Long QT Syndrome
CACNA1C
Female
Adult
Heterozygote
MESH: Mutation
Calcium Channels, L-Type
MESH: Autistic Disorder
Biology
MESH: Phenotype
QT interval
DNA sequencing
03 medical and health sciences
medicine
Humans
Autistic Disorder
030304 developmental biology
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Humans
MESH: Long QT Syndrome
Heterozygote advantage
MESH: Adult
medicine.disease
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
MESH: Syndactyly
Syndactyly
Timothy
Plakophilins
MESH: Female
- Language
- English
- ISSN
- 1769-7212
International audience; CANAC1C encodes for the main cardiac L-type calcium channel and mutations on it lead to a prolonged QT interval in Timothy Syndrome (TS). We provide a new de novo constitutional heterozygote missense variation in CACNA1C in a living adult woman, also carrier of the known c.2146-1G>C heterozygous variation of PKP2 inherited from her father. To our knowledge, this patient is the first to have the two variations in these genes. Theses clinical and molecular findings expand the clinical and molecular spectrum of TS and show the interest of next generation sequencing or whole exome sequencing in rare disorders, atypical or novel phenotype.