Objective: Determine what parents of children with cleft lip and palate value in online educational videos and evaluate whether their needs are currently being met. Design: Focus groups and telephone interviews were used to define parent information needs, followed by an evaluation of whether currently available YouTube videos meet these needs. Setting: British Columbia Children’s Hospital multidisciplinary cleft clinic. Participants: Twenty-four parents of children with nonsyndromic cleft lip and palate. Results: Parents desired videos that are accessible, trustworthy, relatable, and positive. Parents preferred a series of short videos addressing relevant topics as their child grows. Currently available YouTube videos only partially met these needs, with underrepresented topics including hearing, dentition, and surgeries for older children. Conclusions: While access and validity of video resources can be improved by directing patients and families to appropriate videos, some parent needs remain unmet.
BackgroundHelios (encoded byIKZF2), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4+regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.MethodsWe performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation combined with syndromic features including craniofacial differences, sensorineural hearing loss and congenital abnormalities.ResultsGenome sequencing revealedde novoheterozygous variants that alter the critical DNA-binding zinc fingers (ZFs) of Helios. Proband 1 had a tandem duplication of ZFs 2 and 3 in the DNA-binding domain of Helios (p.Gly136_Ser191dup) and Proband 2 had a missense variant impacting one of the key residues for specific base recognition and DNA interaction in ZF2 of Helios (p.Gly153Arg). Functional studies confirmed that both these variant proteins are expressed and that they interfere with the ability of the wild-type Helios protein to perform its canonical function—repressingIL2transcription activity—in a dominant negative manner.ConclusionThis study is the first to describe dominant negativeIKZF2variants. These variants cause a novel genetic syndrome characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
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