HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., Taskiran E. Z., KOŞUKCU C., KARAOSMANOĞLU B., GÜLERAY N., Dogan O. A., ...Daha Fazla

European Journal of Medical Genetics, cilt.60, sa.5, ss.279-283, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 60 Sayı: 5
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ejmg.2017.03.007
  • Dergi Adı: European Journal of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.279-283
  • Anahtar Kelimeler: HERC1, Intellectual disability, Autism, Overgrowth, 17Q21.31 MICRODELETION, UBIQUITIN LIGASE, DELINEATION, PROTEINS, SPECTRUM, VARIANT, GENES
  • Hacettepe Üniversitesi Adresli: Evet

Özet

HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition. Kyphoscoliosis and seizures frequently accompany and autistic features might be another feature as recent studies also implicate. HERC1 mutations should be considered in differential diagnosis of severe intellectual disability and behavioural problems, particularly in patients testing negative for fragile X and KANSL1 mutations. (C) 2017 Elsevier Masson SAS. All rights reserved.