Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Domenica Immacolata Battaglia, Eugenio Maria Mercuri, Giuseppe Zampino, Emanuela Ponzi, Daniela Orteschi, Stefania Ricciardi, Serena Lattante, Marina Murdolo, Ilaria Contaldo, Roseline Caumes, Patrick Edery, Massimiliano Rossi, Maria Piccione, Giovanni Corsello, Matteo Della Monica, Francesca Scarano, Manuela Priolo, Mattia GentileRaymon Vijzelaar, Omar Abdulrahman, Anita Rauch, Beatrice Oneda, Matthew A. Deardorff, Sulagna C. Saitta, Marni J. Falk, Holly Dubbs, Elaine Zackai

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype-phenotype correlations and phenotypic variability have yet to be fully clarified.
Original languageEnglish
Pages (from-to)804-814
Number of pages11
JournalJOURNAL OF MEDICAL GENETICS
Volume52
DOIs
Publication statusPublished - 2015

Keywords

  • 17q21.31 deletion
  • KANSL1 mutation
  • clinical heterogeneity
  • genotype-phenotype correlations

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