Publications by authors named "P Pohjola"
Article Synopsis
- The study investigates the clinical and genetic features of childhood-onset bilateral sensorineural hearing loss (SNHL) in Finland, analyzing data from 249 children diagnosed between 2017 and 2022.
- Findings revealed that 41% of children had pathogenic or likely pathogenic genetic variants associated with SNHL, with a higher prevalence in more severe cases.
- The research highlights genetic diversity in SNHL cases, identifies several population-specific gene variants, and emphasizes the presence of associated conditions like developmental delays and language disorders, underscoring the need for comprehensive patient management.
Article Synopsis
- The KINSSHIP syndrome, caused by de novo variants in the AFF3 gene, leads to intellectual disability, mesomelic dysplasia, and horseshoe kidneys, and is characterized by a dominant-negative effect from increased levels of AFF3.
- Researchers screened intellectual disability cohorts and used animal models to explore additional inheritance patterns and found a range of variants in AFF3, including a de novo duplication linked to a severe phenotype and variants that caused milder symptoms.
- Analysis of zebrafish models confirmed the pathogenic effects of specific AFF3 variations, showing that some mutations disrupted normal function while others led to more severe conditions in individuals with homozygous or compound heterozygous variants.
Introduction: Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic biallelic variants in the deleted in colorectal cancer () gene.
Case Presentation: We report the clinical and genetic characterization of a Syrian patient with a HGPPS2 phenotype and review the previously published cases of HGPPS2. The genetic screening was performed using exome sequencing on Illumina platform.
Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative (DN) mode-of-action, wherein an increased level of AFF3 resulted in pathological effects.
Methods: Evolutionary constraints suggest that other mode-of-inheritance could be at play.
Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Historically, TP63-related phenotypes have been divided into several syndromes based on both the clinical presentation and location of the pathogenic variant on the TP63 gene. This division is complicated by significant overlap between syndromes.
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