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Article

SRD5A3-CDG: Twins with an intragenic tandem duplication.

European journal of medical genetics - 1 May 2022

Rieger Melissa, Türk Matthias, Kraus Cornelia, Uebe Steffen, Ekici Arif B, Krumbiegel Mandy, Huchzermeyer Cord, Reis André, Thiel Christian

Abstract excerpt

Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare metabolic disease mainly characterized by psychomotor disability, visual impairment, and variable eye malformations caused by bi-allelic pathogenic variants in SRD5A3. So far, only 23 distinct mutations were described. Exome sequencing in 32-year old monozygotic male twins revealed only the heterozygous splice variant...

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PMID: 35339718
DOI: 10.1016/j.ejmg.2022.104492

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