Department of Gastroenterology, Hebei Children's Hospital, 133 Jianhua South Street, Shijiazhuang 050031, Hebei Province, China.
Department of Neonatology, Hebei Children's Hospital, 133 Jianhua South Street, Shijiazhuang 050031, Hebei Province, China.
J Int Med Res. 2023 Dec;51(12):3000605231216633. doi: 10.1177/03000605231216633.
Glycogen storage disease type 1b (GSD1b) is a rare genetic disorder, resulting from mutations in the SLC37A4 gene located on chromosome 11q23.3. Although the SLC37A4 gene has been identified as the pathogenic gene for GSD1b, the complete variant spectrum of this gene remains to be fully elucidated. In this study, we present three patients diagnosed with GSD1b through genetic testing. We detected five variants of the SLC37A4 gene in these three patients, with three of these mutations (p. L382Pfs15, p. G117fs28, and p. T312Sfs*13) being novel variants not previously reported in the literature. We also present a literature review and general overview of the currently reported SLC37A4 gene variants. Our study expands the mutation spectrum of SLC37A4, which may help enable genetic testing to facilitate prompt diagnosis, appropriate intervention, and genetic counseling for affected families.
糖原贮积病 1b 型（GSD1b）是一种罕见的遗传性疾病，由位于 11q23.3 染色体上的 SLC37A4 基因突变引起。虽然 SLC37A4 基因已被确定为 GSD1b 的致病基因，但该基因的完整变异谱仍有待充分阐明。在本研究中，我们通过基因检测诊断了 3 名 GSD1b 患者。在这 3 名患者中检测到了 SLC37A4 基因的 5 种变异，其中 3 种突变（p. L382Pfs15、p. G117fs28 和 p. T312Sfs*13）为文献中未报道过的新变异。我们还对目前报道的 SLC37A4 基因突变进行了文献回顾和综述。我们的研究扩展了 SLC37A4 的突变谱，这可能有助于基因检测，从而为受影响的家庭提供及时的诊断、适当的干预和遗传咨询。
