Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature

Elisa Tassano, Sara Uccella, Mariasavina Severino, Thea Giacomini, Francesca Nardi, Giorgio Gimelli, Elisa Tavella, Patrizia Ronchetto, Michela Malacarne, Domenico Coviello

Research output: Contribution to journalArticlepeer-review

Abstract

Interstitial 6p25.1p24.3 microdeletions are rare events and a clear karyotype/phenotype correlation has not yet been determined. In this study, we present the clinical and molecular description of a child with a de novo 6p25.1p24.3 microdeletion, characterized by array-CGH, associated with mild intellectual disability, facial dysmorphisms, hypopigmentation of the skin of the abdomen, heart defects, mild pontine hypoplasia and hypotonia. This deleted region contains 14 OMIM genes (NRN1, F13A1, RREB1, SSR1, RIOK1, DSP, BMP6, TXNDC5, BLOC1S5, EEF1E1, SLC35B3 and HULC). To the best of our knowledge until now only six cases have been reported presenting an interstitial microdeletion, but a unique case carries a deleted region containing the same genes of our patient. We compared clinical features and genetic data with that of the previously reported patient. We also analysed the gene content of the deleted region to investigate the possible role of specific genes in the clinical phenotype of our patient.

Original languageEnglish
Article number9
JournalJournal of Genetics
Volume100
Issue number1
DOIs
Publication statusPublished - Dec 2021

Keywords

  • 6p25.1p24.3 microdeletion
  • array-CGH
  • brain MRI abnormal
  • clinical phenotype
  • cytogenetics

ASJC Scopus subject areas

  • Genetics

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