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
Click here to view fulltext PDF
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, characterizedby array-CGH, associated with mild intellectual disability, facial dysmorphisms, hypopigmentation of the skin of the abdomen, heartdefects, 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 reportedpresenting an interstitial microdeletion, but a unique case carries a deleted region containing the same genes of our patient. We comparedclinical features and genetic data with that of the previously reported patient. We also analysed the gene content of the deleted region toinvestigate the possible role of specific genes in the clinical phenotype of our patient.
ELISA TASSANO1 SARA UCCELLA2 3 MARIASAVINA SEVERINO4 THEA GIACOMINI3 FRANCESCA NARDI5 GIORGIO GIMELLI6 ELISA TAVELLA1 PATRIZIA RONCHETTO1 MICHELA MALACARNE1 DOMENICO COVIELLO1
Volume 102, 2023
Continuous Article Publishing mode
Click here for Editorial Note on CAP Mode