Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
Mol Syndromol
; 13(4): 350-359, 2022 Jul.
Article
en En
| MEDLINE
| ID: mdl-36158050
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Mol Syndromol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Japón