Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.
Eur J Med Genet
; 62(7): 103648, 2019 Jul.
Article
en En
| MEDLINE
| ID: mdl-30998997
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Trastorno Autístico
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Síndrome de QT Prolongado
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Sindactilia
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Canales de Calcio Tipo L
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article