ABSTRACT
Rare heterozygous variants in exons 33-34 of the SRCAP gene are associated with Floating-Harbor syndrome and have a dominant-negative mechanism of action. At variance, heterozygous null alleles falling in other parts of the same gene cause developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) syndrome. We report an 18-year-old man with DEHMBA syndrome and obstructive sleep apnea, who underwent exome sequencing (ES) and whole transcriptome sequencing (WTS) on peripheral blood. Trio analysis prioritized the de novo heterozygous c.5658+5 G > A variant. WTS promptly demostrated four different abnormal transcripts affecting >40% of the reads, three of which leading to a frameshift. This study demonstrated the efficacy of a combined ES-WTS approach in solving undiagnosed cases. We also speculated that sleep respiratory disorder may be an underdiagnosed complication of DEHMBA syndrome.
Subject(s)
Exome Sequencing , Humans , Male , Adolescent , Introns/genetics , Exome/genetics , Muscle Hypotonia/genetics , Developmental Disabilities/genetics , Developmental Disabilities/pathology , Transcriptome/genetics , Abnormalities, Multiple/genetics , Sleep Wake Disorders/genetics , Sleep Apnea, Obstructive/genetics , HeterozygoteABSTRACT
BACKGROUND AND AIM: The aim of this research was to review the articles published by the Otolaryngology (ORL) departments of the Italian University Hospitals in 2019 and in 2020 in order to analyze the impact of the COVID-19 pandemic on the academic production. METHODS: PubMed and Scopus were searched for the articles published by the ORL departments of the Italian Universities in 2019 and in 2020. The main eligibility criteria were English-language articles, while there were no exclusion criteria related to topic. The articles were classified into seven domains corresponding to the main ORL subspecialties. RESULTS: There was an overall increase in the number of articles by the 42.2% in 2020. Publications pertaining Rhinology and Laryngology increased more significantly in 2020, respectively by the 50.5% and 72.2%. Additionally, there was an increase in the number of articles concerning topics of general interest, by the 95.2% in 2020. Also, the citation trends of the articles published by the Italian University Hospitals increased remarkably in 2020. CONCLUSIONS: These results evidenced an overall increase in the number of ORL articles. Although 2020 is going to be remembered as a year to forget, it should be acknowledged for being the "golden year of research".
