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

Yuksel Z., Yazol M., Gumus E.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.179, sa.8, ss.1603-1608, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 179 Sayı: 8
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1002/ajmg.a.61210
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1603-1608
  • Anahtar Kelimeler: ACTLB6, DECAM, inframe deletion, neurodevelopment, WES, SEQUENCE VARIANTS, MUTATIONS, BAF53B
  • Gazi Üniversitesi Adresli: Evet

Özet

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.