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

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

Research output: Contribution to journalArticlepeer-review

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
Publication statusPublished - 2015

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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