MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Metab Brain Dis
; 33(6): 2065-2068, 2018 12.
Article
en En
| MEDLINE
| ID: mdl-30244301
ABSTRACT
MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing. Sequencing of AP1S1 gene showed a homozygous insertion c.364dupG (NM_001283.4), which is predicted to cause a frameshift of the reading frame (p.D122Gfs*18). To our knowledge, this is the first case of MEDNIK syndrome from Turkey. Diagnosis of MEDNIK syndrome is still challenging and we hope that this case will contribute to further understanding.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mutación del Sistema de Lectura
/
Cobre
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Complejo 1 de Proteína Adaptadora
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Subunidades sigma de Complejo de Proteína Adaptadora
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
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Female
/
Humans
Idioma:
En
Revista:
Metab Brain Dis
Asunto de la revista:
CEREBRO
/
METABOLISMO
Año:
2018
Tipo del documento:
Article
País de afiliación:
Turquía