Dyggve-Melchior-Clausen SyndromeCaused by a Novel Frameshift Variant ina Japanese Patient

Molecular syndromology

article

Obara, Koji¹  Abe, Erika¹  Toyoshima, Itaru¹ 

[1] Department of Neurology, National Hospital Organization Akita National Hospital

关键词: Dyggve-Melchior-Clausen syndrome;    DYM;    Dymeclin;    Novel variant;    Spondyloepimetaphyseal dysplasia;   

DOI  :  10.1159/000521516

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Introduction: Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal recessive spondyloepimetaphyseal dysplasia characterized by short stature, microcephaly, intellectual disability, and coarse face. This disorder is caused by pathogenic/likely pathogenic variants of the DYM gene which encodes dymeclin. Case Presentation: Herein, we report a 60-year-old Japanese man who was born to consanguineous parents. He presented with abdominal distention and rectal prolapse in addition to the common features of DMC. We identified a novel homozygous frameshift variant [c.1670delT, p.(Leu557Argfs*20)] in the DYM gene, which introduces a premature stop codon. Histological analysis revealed disarrangement of actin filaments in cultured fibroblasts. Discussion: To the best of our knowledge, this is the first Japanese case of DMC with a confirmed variant in the DYM gene. This report provides more information about the geographic distribution and phenotypic spectrum of DMC. Moreover, it presents a novel DYM variant and insights about DMC pathology that may be associated with the disarrangement of actin filaments.

【 授权许可】

CC BY