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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/100/0009

    • Keywords

       

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

    • 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, 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.

    • Author Affiliations

       

      ELISA TASSANO1 SARA UCCELLA2 3 MARIASAVINA SEVERINO4 THEA GIACOMINI3 FRANCESCA NARDI5 GIORGIO GIMELLI6 ELISA TAVELLA1 PATRIZIA RONCHETTO1 MICHELA MALACARNE1 DOMENICO COVIELLO1

      1. Laboratory of Human Genetics, IRCCS Giannina Gaslini, Largo G.Gaslini, 16147 Genoa, Italy
      2. University of Genoa, 16100 Largo Benedetto XV, Genoa, Italy
      3. Child Neuropsychiatry Unit, IRCCS Giannina Gaslini, Largo G.Gaslini, 16147 Genoa, Italy
      4. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Largo G.Gaslini, 16147 Genoa, Italy
      5. Radiology Unit, IRCCS Istituto Giannina Gaslini, Largo G.Gaslini, 16147 Genoa, Italy
      6. Formerly, Laboratory of Cytogenetics, IRCCS Giannina Gaslini, Largo G.Gaslini, 16147 Genoa, Italy

    • Dates

       
      Published
      12 February 2021
      Manuscript received
      23 July 2020
      Manuscript revised
      31 August 2020
      Accepted
      7 October 2020
      Final version published online
      12 February 2021

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      Posted on July 25, 2019

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