Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to bia...
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MDPI AG
2023-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/2/484 |
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| author | Anna Paola Capra Maria Angela La Rosa Sara Briguori Rosa Civa Chiara Passarelli Emanuele Agolini Antonio Novelli Silvana Briuglia |
| author_facet | Anna Paola Capra Maria Angela La Rosa Sara Briguori Rosa Civa Chiara Passarelli Emanuele Agolini Antonio Novelli Silvana Briuglia |
| author_sort | Anna Paola Capra |
| collection | DOAJ |
| description | Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the <i>WDR19</i> gene associated with autosomal recessive ciliopathy; down syndrome and two variants, c.850G>A; p.(Gly284Arg) and c.5374G>T; p.(Glu1792*), in the <i>LAMA2</i> gene associated with merosin-deficient congenital muscular dystrophy type 1A (MDC1A); and a de novo 16p11.2 microdeletion syndrome and homozygous variant, c.2828G>A (p.Arg943Gln), in the <i>ABCA4</i> gene associated with Stargardt disease 1 (STGD1). The possibility of being affected by two relatively common or rare inherited genetic conditions would be suspected when signs and symptoms are incoherent with the primary diagnosis. All this could have important implications for improving genetic counseling, determining the correct prognosis, and, consequently, organizing the best long-term follow-up. |
| first_indexed | 2024-03-11T08:46:44Z |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T08:46:44Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-423d210fc1134f668032a866b4fea9142023-11-16T20:43:36ZengMDPI AGGenes2073-44252023-02-0114248410.3390/genes14020484Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual DiagnosisAnna Paola Capra0Maria Angela La Rosa1Sara Briguori2Rosa Civa3Chiara Passarelli4Emanuele Agolini5Antonio Novelli6Silvana Briuglia7Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Viale Ferdinando Stagno D’Alcontres 31, 98166 Messina, ItalyGenetics and Pharmacogenetics Unit, “Gaetano Martino” University Hospital, Via Consolare Valeria 1, 98125 Messina, ItalyGenetics and Pharmacogenetics Unit, “Gaetano Martino” University Hospital, Via Consolare Valeria 1, 98125 Messina, ItalyGenetics and Pharmacogenetics Unit, “Gaetano Martino” University Hospital, Via Consolare Valeria 1, 98125 Messina, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyGenetics and Pharmacogenetics Unit, “Gaetano Martino” University Hospital, Via Consolare Valeria 1, 98125 Messina, ItalyTechnological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the <i>WDR19</i> gene associated with autosomal recessive ciliopathy; down syndrome and two variants, c.850G>A; p.(Gly284Arg) and c.5374G>T; p.(Glu1792*), in the <i>LAMA2</i> gene associated with merosin-deficient congenital muscular dystrophy type 1A (MDC1A); and a de novo 16p11.2 microdeletion syndrome and homozygous variant, c.2828G>A (p.Arg943Gln), in the <i>ABCA4</i> gene associated with Stargardt disease 1 (STGD1). The possibility of being affected by two relatively common or rare inherited genetic conditions would be suspected when signs and symptoms are incoherent with the primary diagnosis. All this could have important implications for improving genetic counseling, determining the correct prognosis, and, consequently, organizing the best long-term follow-up.https://www.mdpi.com/2073-4425/14/2/484genetic diseasesphenotypeclinical competencediagnosisrare diseases |
| spellingShingle | Anna Paola Capra Maria Angela La Rosa Sara Briguori Rosa Civa Chiara Passarelli Emanuele Agolini Antonio Novelli Silvana Briuglia Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis Genes genetic diseases phenotype clinical competence diagnosis rare diseases |
| title | Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis |
| title_full | Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis |
| title_fullStr | Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis |
| title_full_unstemmed | Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis |
| title_short | Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis |
| title_sort | coexistence of genetic diseases is a new clinical challenge three unrelated cases of dual diagnosis |
| topic | genetic diseases phenotype clinical competence diagnosis rare diseases |
| url | https://www.mdpi.com/2073-4425/14/2/484 |
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