TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Am J Med Genet A
; 173(3): 771-775, 2017 Mar.
Article
en En
| MEDLINE
| ID: mdl-28211972
ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC. This finding has significant implications for counseling patients regarding prognosis. More patient data are required before changing the surveillance recommendations for patients with the reported variant. However, consideration should be given to tailoring surveillance recommendations for all pathogenic TSC1 and TSC2 variants with documented milder clinical sequelae. © 2017 Wiley Periodicals, Inc.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Esclerosis Tuberosa
/
Proteínas Supresoras de Tumor
/
Alelos
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Estudios de Asociación Genética
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
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Child, preschool
/
Female
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2017
Tipo del documento:
Article