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

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 inte...

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Bibliographic Details
Published in:Journal of genetics 2021, Vol.100 (1), Article 9
Main Authors: Tassano, Elisa, Uccella, Sara, Severino, Mariasavina, Giacomini, Thea, Nardi, Francesca, Gimelli, Giorgio, Tavella, Elisa, Ronchetto, Patrizia, Malacarne, Michela, Coviello, Domenico
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Cytogenetics
Evolutionary Biology
Genetic aspects
Genotype & phenotype
Hypoplasia
Intellectual disabilities
Karyotypes
Life Sciences
Literature reviews
Microbial Genetics and Genomics
Pericyazine
Phenotypes
Pigmentation
Plant Genetics and Genomics
Research Article
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Summary: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.
ISSN:0022-1333
0973-7731
DOI:10.1007/s12041-021-01261-x