Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome
The heterozygous mutations <i>SPTB</i> c.6005G>A (p.Trp2002*) and <i>LPL</i> c.292G>A (p.Ala98Thr) are the pathogenic causes in this family and provide a basis for clinical management and genetic counseling. Based on the HGMD, 1000G, and ExAC databases, the <i>SPTB</i> c.6005G>A (p.Trp2002*) mutation is reported here for the first time, enriching the mutation spectrum of the <i>SPTB</i> gene.
Authors
- Xiaojing Huang
- Mengyue Xie
- Xingjiang Long (ORCID: https://orcid.org/0009-0004-6530-5486)
- Hualian Li
- Kecheng Li
- Shifu Tang
- Yanping Liu
- Xuan Pan
- Yumei Qin
- Xiao Chen
- Yaoming Deng
Institutions
- National Health and Family Planning Commission (CN)
- Liuzhou General Hospital (CN)
- National Blood Transfusion Service (NG)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-01-22
- DOI
- https://doi.org/10.3389/fgene.2026.1659838
- Primary Topic
- Lipid metabolism and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00