A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

被引:0
|
作者
Pan, Yijun [1 ]
Ren, Bin [2 ]
Chen, Lijuan [2 ]
Li, Qiang [1 ]
机构
[1] Guiyang Maternal & Child Hlth Care Hosp, Dept Pediat Neurol, Guiyang, Peoples R China
[2] Shanghai Nyuen Biotechnol Co Ltd, Dept Genet Counseling, Shanghai, Peoples R China
来源
FRONTIERS IN PEDIATRICS | 2024年 / 12卷
关键词
PGAP2; variants; hyperphosphatasia with impaired intellectual development syndrome; epileptic spasms; facial malformation; ACTH treatment; pyridoxine; ANCHOR-SYNTHESIS PATHWAY; MENTAL-RETARDATION; MUTATIONS; PGAP2; EPILEPSY;
D O I
10.3389/fped.2024.1419976
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual development syndrome(HPMRS). Reports involving the rare pathogenic gene, post-GPI attachment to proteins 2 (PGAP2) are quite limited. In this study, we reported two patients with PGAP2 variants related neurodevelopmental disorders from Asian population. The proband, onset of epileptic spasms at 5 months, concurrently with global developmental dalay, facial malformation and elevated alkaline phosphatase. His younger sister, onset of epileptic spasms at 2 months, having similar clinical features as the proband. Their phenotypes are consistent with PGAP2 related diseases. The two missense variants [c.686C>T (p.Ala229Val) and c.677C>T (p.Thr226Ile)] in PGAP2 gene found in this family were segregation with the disease, while c.677C>T (p.Thr226Ile) was a novel variant. All the two patients showed a positive response to ACTH treatment and high-dose pyridoxine. In summary, this study contributes to expanding the pathogenic variant spectrum of PGAP2 related HPMRS, and provides new insights into the treatment.
引用
收藏
页数:12
相关论文
共 50 条
  • [31] De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature
    Wang, Qin
    Zhang, Jianming
    Jiang, Nan
    Xie, Jiansheng
    Yang, Jingxin
    Zhao, Xiaoshan
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (05):
  • [32] 2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
    Candelo, Estephania
    Giraldo-Ocampo, Sebastian
    Nevado, Julian
    Lapunzina, Pablo
    Pachajoa, Harry
    BMC PEDIATRICS, 2024, 24 (01)
  • [33] Band-shaped keratopathy in HNF4A-related Fanconi syndrome: a case report and review of the literature
    Verma, Anshuman
    Mishra, Dilip Kumar
    Edward, Deepak P.
    Ramappa, Muralidhar
    OPHTHALMIC GENETICS, 2024, 45 (03) : 246 - 251
  • [34] CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
    Sun, Ying
    Liu, Yi-Dan
    Xu, Zhi-Feng
    Kong, Qing-Xia
    Wang, Yan-Ling
    WORLD JOURNAL OF CLINICAL CASES, 2018, 6 (12) : 570 - 576
  • [35] CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome:A case report and review of literature
    Ying Sun
    Yi-Dan Liu
    Zhi-Feng Xu
    Qing-Xia Kong
    Yan-Ling Wang
    World Journal of Clinical Cases, 2018, 6 (12) : 570 - 576
  • [36] Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review
    Pan, Jianwei
    Chia, Hanbin
    Kusnadi, Julia
    Li, Zhongyue
    Yu, Lin
    APPLIED NEUROPSYCHOLOGY-CHILD, 2025,
  • [37] Clinical Disease States Related to Mutations of the NOD2 Gene: A Case Report and Literature Review
    Walia, Jasmit
    Mujahid, Rehan
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (05)
  • [38] A novel variant in ALMS1 in a patient with Alstrom syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review
    Zhou, Cong
    Xiao, Yuanyuan
    Xie, Hanbing
    Liu, Shanling
    Wang, Jing
    MOLECULAR MEDICINE REPORTS, 2020, 22 (04) : 3271 - 3276
  • [39] De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature
    Ullman, Natalie L.
    Smith-Hicks, Constance L.
    Desai, Sonal
    Stafstrom, Carl E.
    PEDIATRIC NEUROLOGY, 2018, 85 : 76 - 78
  • [40] FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review
    Giovannini, Giada
    Giannoccaro, Maria Pia
    Cioclu, Maria Cristina
    Orlandi, Niccolo
    Liguori, Rocco
    Meletti, Stefano
    EPILEPSIA, 2024, 65 (07) : e119 - e124