Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination

Am J Med Genet A. 2019 Aug;179(8):1603-1608. doi: 10.1002/ajmg.a.61210. Epub 2019 May 27.

Abstract

The extensive usage of next generation sequencing, particularly for the patients affected with neurodevelopmental disorders, has increased our understanding and enabled identifying novel disorder genes. Here, we report an extended consanguineous family having at least three affected children with ACTL6B-related neurodevelopmental disorder and expand the known phenotypic spectrum by characterizing the clinical findings using a standardized vocabulary, Human Phenotype Ontology Terms.

Keywords: ACTLB6; DECAM; WES; inframe deletion; neurodevelopment.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / genetics*
  • Alleles
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / genetics*
  • Consanguinity
  • DNA-Binding Proteins / genetics*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genotype
  • Homozygote*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics
  • Phenotype*

Substances

  • ACTL6B protein, human
  • Actins
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins