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Review
. 2018 Dec;33(6):2065-2068.
doi: 10.1007/s11011-018-0313-4. Epub 2018 Sep 23.

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

Faruk Incecik  1 , Atil Bisgin  2 , Mustafa Yılmaz  3
Affiliations
Review

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

Faruk Incecik et al. Metab Brain Dis. 2018 Dec.

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.

Keywords: AP1S1 mutation; MEDNIK syndrome; Neuro-ichthyotic syndromes.

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References

    1. Gene. 2002 Mar 20;286(2):175-86 - PubMed
    1. Ann N Y Acad Sci. 2014 May;1314:55-63 - PubMed
    1. PLoS Genet. 2008 Dec;4(12):e1000296 - PubMed
    1. Hum Genet. 2005 Feb;116(3):167-71 - PubMed
    1. Dis Model Mech. 2010 Sep-Oct;3(9-10):639-51 - PubMed

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