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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Bibliographic Details
Published in:Genes 2023-02, Vol.14 (2), p.484
Main Authors: Capra, Anna Paola, La Rosa, Maria Angela, Briguori, Sara, Civa, Rosa, Passarelli, Chiara, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana
Format: Article
Language:English
Subjects:
Aneuploidy
Case Report
Chromosomes
Coexistence
Copy number
Cytogenetics
Development and progression
Diagnosis
Down's syndrome
Genetic analysis
Genetic counseling
Genetic disorders
Genetic testing
Genetics
Hereditary diseases
Methods
Muscular dystrophy
Mutation
Software
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Summary: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 gene associated with autosomal recessive ciliopathy; down syndrome and two variants, c.850G>A; p.(Gly284Arg) and c.5374G>T; p.(Glu1792*), in the 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 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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14020484