Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino, Domenica Immacolata Battaglia, Eugenio Maria Mercuri, Pietro Chiurazzi, Giuseppe Marangi, Daniela Orteschi, Marina Murdolo, Serena Lattante, Maria Chiara Stefanini, Giovanni Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

95 Citazioni (Scopus)

Abstract

The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.
Lingua originaleEnglish
pagine (da-a)636-638
Numero di pagine3
RivistaNature Genetics
Volume44
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Abnormalities, Multiple
  • Adolescent
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17
  • Facies
  • Female
  • Haploinsufficiency
  • Humans
  • Intellectual Disability
  • Nuclear Proteins
  • Phenotype
  • Syndrome

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