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Your search keyword '"MEDNIK syndrome"' showing total 2 results
Start Over Descriptor "MEDNIK syndrome" Journal metabolic brain disease
2 results on '"MEDNIK syndrome"'

1. MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.

Author

Incecik, Faruk, Bisgin, Atil, and Yılmaz, Mustafa

Subjects
*COPPER metabolism disorders, *GENETIC mutation, *INTELLECTUAL disabilities, *ICHTHYOSIS, *MOLECULAR genetics
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. [ABSTRACT FROM AUTHOR]

Published
2018
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2. MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features

Author

Mustafa Yilmaz, Faruk Incecik, Atil Bisgin, and Çukurova Üniversitesi

Subjects
0301 basic medicine, medicine.medical_specialty, AP1S1 mutation, Adaptor Protein Complex sigma Subunits, Hearing loss, Adaptor Protein Complex 1, Biochemistry, Frameshift mutation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Intellectual disability, medicine, Humans, Child, Frameshift Mutation, MEDNIK syndrome, business.industry, Ichthyosis, Syndrome, medicine.disease, Dermatology, 030104 developmental biology, Peripheral neuropathy, Copper-Transporting ATPases, Mutation (genetic algorithm), Neuro-ichthyotic syndromes, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Copper, Rare disease
Abstract

PubMedID: 30244301 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. © 2018, Springer Science+Business Media, LLC, part of Springer Nature.

Published
2018

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