P656: Rare genetic mechanisms in DYM-related Dyggve–Melchior–Clausen disease

Genetics in Medicine Open 2026 Open access

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Authors: Prince Jacob, Deepa Bhat, Gopika KN, Mohandas Nair K, Monkol Lek, Siddaramappa Jagdish Patil
DOI: 10.1016/j.gimo.2026.104146
Cited by: 0

Abstract

Dyggve–Melchior–Clausen (DMC) disease is a rare autosomal recessive skeletal dysplasia characterized by spondyloepimetaphyseal abnormalities, microcephaly, and intellectual disability. It is caused by biallelic pathogenic variants in DYM, which encodes Dymeclin, a Golgi-associated protein. Loss of Dymeclin function due to truncating variants leads to DMC, whereas missense variants in the same gene are typically associated with an allelic but non-neurological disorder, Smith–McCort dysplasia (SMC).

Fields of Study & Subjects

Connective tissue disorders research Genomics and Rare Diseases Dermatological and Skeletal Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104146–104146
Publication date
1 January 2026
Language
EN