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A novel GNAS-Gsa splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism.
- Source :
-
Clinical Pediatric Endocrinology . Apr2024, Vol. 33 Issue 2, p66-70. 5p. - Publication Year :
- 2024
-
Abstract
- We encountered a Chinese girl with pseudohypoparathyroidism type 1A (PHP1A) and her mother with pseudopseudohypoparathyroidism (PPHP). Sequencing analysis of GNAS-Gsa revealed a heterozygous c.212+2T>C variant (NM_000516.4) affecting the canonical splice donor site of intron 2 in the girl and her mother. RT-PCR performed on mRNA samples obtained from cycloheximide-treated and cycloheximide-untreated lymphoblastoid cell lines of this girl revealed the utilization of an alternative splice donor site at 33-34 bp from the boundary between exon 2 and intron 2 and the production of an aberrant mRNA with a retention of a 32 bp intronic sequence between exon 2 and exon 3 (p.(Gly72Lysfs*39)), which satisfied the condition for the occurrence of nonsense-mediated mRNA decay, as predicted by SpliceAI. This study revealed the molecular consequences of disruption of the canonical splice donor site and confirmed the clinical utility of SpliceAI. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 09185739
- Volume :
- 33
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Clinical Pediatric Endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 178578667
- Full Text :
- https://doi.org/10.1297/cpe.2023-0065