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Article

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

American journal of medical genetics. Part A - 1 Apr 2020

Yıldız Yılmaz, Arslan Mutluay, Çelik Gökalp, Kasapkara Çiğdem Seher, Ceylaner Serdar, Dursun Ali, Sivri Hatice Serap, Coşkun Turgay, Tokatlı Ayşegül

Abstract excerpt

Phosphomannomutase 2 deficiency (PMM2-CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common, compared to Europe. However, published reports of PMM2-CDG from...

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PMID: 31981409
DOI: 10.1002/ajmg.a.61488

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