Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Analysis of the Phenotypes in the Rett Networked Database

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Gene editing in the context of an increasingly complex genome

    Publikation: Bidrag til tidsskriftReviewpeer review

  3. Strategy for efficient generation of numerous full-length cDNA clones of classical swine fever virus for haplotyping

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. DLG4-related synaptopathy: a new rare brain disorder

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Elisa Frullanti
  • Filomena T Papa
  • Elisa Grillo
  • Angus Clarke
  • Bruria Ben-Zeev
  • Mercedes Pineda
  • Nadia Bahi-Buisson
  • Thierry Bienvenu
  • Judith Armstrong
  • Ana Roche Martinez
  • Francesca Mari
  • Andreea Nissenkorn
  • Caterina Lo Rizzo
  • Edvige Veneselli
  • Silvia Russo
  • Aglaia Vignoli
  • Giorgio Pini
  • Milena Djuric
  • Anne-Marie Bisgaard
  • Kirstine Ravn
  • Vlatka Mejaski Bosnjak
  • Joussef Hayek
  • Rajni Khajuria
  • Barbara Montomoli
  • Francesca Cogliati
  • Maria Pintaudi
  • Kinga Hadzsiev
  • Dana Craiu
  • Victoria Voinova
  • Aleksandra Djukic
  • Laurent Villard
  • Alessandra Renieri
Vis graf over relationer

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 mutations have been reported in Rett patients, especially with the atypical presentation. Each gene and different mutations within each gene contribute to variability in clinical presentation, and several groups worldwide performed genotype-phenotype correlation studies using cohorts of patients with classic and atypical forms of Rett spectrum disorder. The Rett Networked Database is a unified registry of clinical and molecular data of Rett patients, and it is currently one of the largest Rett registries worldwide with several hundred records provided by Rett expert clinicians from 13 countries. Collected data revealed that the majority of MECP2-mutated patients present with the classic form, the majority of CDKL5-mutated patients with the early-onset seizure variant, and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the Rett Networked Database allows the grouping of patients presenting specific clinical and genetic characteristics for studies by the Rett community and beyond. These data will also serve for the development of clinical trials involving homogeneous groups of patients.

OriginalsprogEngelsk
TidsskriftBMC Genomics
Vol/bind2019
Sider (fra-til)6956934
ISSN2314-436X
DOI
StatusUdgivet - 2019

ID: 59081333