Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review.
Maria Teresa BonatiAgnese FeresinPaolo PronteraPaola MichielettoValeria GambacortaGiampietro RicciEva OrzanPublished in: Genes (2024)
Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.7 Mb deletion of the Xq21 critical locus, we propose an unreported literature review about clinical findings in patients and their family members with Xq21 deletion syndrome. We finally propose a comprehensive review of HL in contiguous gene syndromes in order to confirm the role of cytogenomic microarray analysis to investigate the etiology of unexplained HL.
Keyphrases
- case report
- hearing loss
- genome wide
- copy number
- end stage renal disease
- intellectual disability
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- gene expression
- mass spectrometry
- electronic health record
- autism spectrum disorder
- big data
- deep learning
- patient reported outcomes
- solid phase extraction
- high resolution
- bioinformatics analysis
- liquid chromatography
- simultaneous determination