MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features
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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.
KeywordsMEDNIK syndrome Neuro-ichthyotic syndromes AP1S1 mutation
Faruk Incecik, writer of the manuscript.
Atil Bisgin, molecular testing and supervision.
Mustafa Yilmaz, supervision.
Compliance with ethical standards
Conflict of interest
The authors declare no conflict of interest.
Legal authorization and ethics approval
The parents gave their permission for publication, written informed consents were obtained from parents for the genetic analyses.