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Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Hejla, Duha; Huynh, Stephanie; Samra, Simran; Richmond, Phillip A; Dalmann, Joshua; Del Bel, Kate L; Byres, Loryn; Lehman, Anna; Turvey, Stuart E; Boerkoel, Cornelius F.
Afiliación
  • Hejla D; Department of Pediatrics, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Huynh S; Provincial Medical Genetics Program, B.C. Women's Hospital, Vancouver, British Columbia, Canada.
  • Samra S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Richmond PA; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Dalmann J; Experimental Medicine Program, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Del Bel KL; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Byres L; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Lehman A; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Turvey SE; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Boerkoel CF; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Am J Med Genet A ; 194(6): e63548, 2024 06.
Article en En | MEDLINE | ID: mdl-38264805
ABSTRACT
Pathogenic PHF21A variation causes PHF21A-related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense variants as well as frameshift variants extending the BHC80 carboxyl terminus also cause disease. Expanding on these, we report a proposita with intellectual disability and overgrowth and a novel de novo heterozygous PHF21A splice variant (NM_001352027.3c.[153+1G>C];[=]) causing skipping of exon 6, which encodes an in-frame BHC80 deletion (p.(Asn30_Gln51del)). This deletion disrupts a predicted leucine zipper domain and implicates this domain in BHC80 function and as a target of variation causing PHF21A-related NDDs. This extension of understanding emphasizes the application of RNA analysis in precision genomic medicine practice.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A / Am. j. med. genet., Part A / American journal of medical genetics. Part A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A / Am. j. med. genet., Part A / American journal of medical genetics. Part A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Canadá