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Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Gonçalves, Catarina I. ; Carriço, Josianne N. ; Omar, Omneya M. ; Abdalla, Ebtesam ; Lemos, Manuel C.

Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1207425-1207425 [Periódico revisado por pares]

Frontiers Media S.A

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  • Título:
    Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
  • Autor: Gonçalves, Catarina I. ; Carriço, Josianne N. ; Omar, Omneya M. ; Abdalla, Ebtesam ; Lemos, Manuel C.
  • Assuntos: deafness ; Endocrinology ; GATA3 ; HDR syndrome ; hypoparathyroidism ; renal dysplasia ; splice site mutation
  • É parte de: Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1207425-1207425
  • Notas: ObjectType-Case Study-2
    SourceType-Scholarly Journals-1
    ObjectType-Feature-4
    content type line 23
    ObjectType-Report-1
    ObjectType-Article-3
    Reviewed by: Hao Zhang, Shanghai Jiao Tong University, China; Andrew Mallett, Townsville University Hospital, Australia
    Edited by: Anatoly Tiulpakov, Research Centre for Medical Genetics, Russia
    These authors have contributed equally to this work and share first authorship
    ORCID: Manuel C. Lemos, orcid.org/0000-0001-9326-8900
  • Descrição: The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene. We report an 11-year-old girl with HDR syndrome caused by a heterozygous mutation located at the splice acceptor site of exon 5 of the GATA3 gene (NM_001002295.2: c.925-1G>T). Functional studies using a minigene assay showed that this splice site mutation abolished the normal splicing of the GATA3 pre-mRNA and led to the use of a cryptic splice acceptor site, resulting in the loss of the first seven nucleotides (TCTGCAG) of exon 5 in the GATA3 mRNA. These findings increase the understanding of the mechanisms by which GATA3 splicing mutations can cause HDR syndrome.
  • Editor: Frontiers Media S.A
  • Idioma: Inglês
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