• PATRIZIA RONCHETTO

      Articles written in Journal of Genetics

    • ‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22

      ELISA TASSANO PATRIZIA RONCHETTO ANNALISA CALCAGNO PATRIZIA FIORIO GIORGIO GIMELLI VALERIA CAPRA MARCELLO SCALA

      More Details Abstract Fulltext PDF

      The 16p12.2 chromosome band contains three large segmental duplications: BP1, BP2 and BP3, providing a substrate for recombination and recurrent chromosomal rearrangements. The ‘16p12.2 microdeletion’ is a recurrent deletion comprised between BP2 and BP3, associated with variable clinical findings. We identified a heterozygous 16p12.2 microdeletion spanning between BP1 and BP2 in a child evaluated for short stature and mild dyslexia. Unexpectedly, the mother carried the same deletion in the homozygous state and suffered from severe hearing loss. Detailed family history revealed consanguinity of the maternal grandparents. The 16p12.2 microdeletion is a rare condition and contains only three genes: METTL9, IGSF6 and OTOA of which the OTOA is considered responsible for DFNB22 hearing loss (MIM: 607039) under its homozygous condition. A number of OTOA mutations have been described, whereas very few cases of a 16p12.2 microdeletion similar to that observed in our family have been reported. In conclusion, we describe a rare ‘distal 16p12.2microdeletion’ widening the phenotypic spectrum associated with the recurrent 16p12.2 microdeletion and support the causative role of OTOA microdeletion in hearing impairment.

    • 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

      More Details Abstract 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.

  • Journal of Genetics | News

    • Editorial Note on Continuous Article Publication

      Posted on July 25, 2019

      Click here for Editorial Note on CAP Mode

© 2021-2022 Indian Academy of Sciences, Bengaluru.