16 research outputs found

    Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

    Get PDF
    Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors may play a role. To date, 37 patients with GOSHS have been reported. Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our knowledge, this is the first time that missense variants have been reported in GOSHS. We functionally investigated the effect of the variants identified, in an attempt to find a genotype-phenotype correlation. We also determined whether common Hirschsprung disease (HSCR)-associated single nucleotide polymorphisms (SNPs), could explain the presence of HSCR in GOSHS. Our results showed that the missense variants led to reduced expression of KIFBP, while the truncating variants resulted in lack of protein. However, no correlation was found between the severity of GOSHS and the location of the variants. We were also unable to find a correlation between common HSCR-associated SNPs, and HSCR development in GOSHS. In conclusion, we show that reduced, as well as lack of KIFBP expression can lead to GOSHS, and our results suggest that a threshold expression of KIFBP may modulate phenotypic variability of the disease

    Cardiovascular examination [DVD/video presentation]

    No full text

    Cranial nerves examination [DVD/video presentation]

    No full text

    Case history taking and differential diagnosis [DVD/video presentation]

    No full text

    Musculoskeletal examination [DVD/video presentation]

    No full text
    An extensive DVD/video presentation on physical examination and clinical diagnosis of the musculoskeletal system. It incorporates 100s of images, tables, summaries, Q&A slide shows. Menu options for narrated or brief examination procedures. It includes revision of connective tissues, synovial joints, case history questions, pain and referral patterns and investigations of common pathologies

    Abdominal examination [DVD/video presentation]

    No full text

    General examination [DVD/video presentation]

    No full text

    Respiratory examination [DVD/video presentation]

    No full text

    Peripheral nervous system examination [DVD/video presentation]

    No full text
    corecore