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CASE REPORT article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1419976
This article is part of the Research Topic Rare Diseases: From Basic Science to Clinical Practice and Public Health View all 10 articles

A Case Report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese Family and literature review

Provisionally accepted
Yijun Pan Yijun Pan 1Bin Ren Bin Ren 2*Lijuan Chen Lijuan Chen 2*Qiang Li Qiang Li 1*
  • 1 Guiyang Maternal and child Health Care Hospital, Guiyang, China
  • 2 Shanghai Nyuen Biotechnology Co., Ltd., Shanghai, China

The final, formatted version of the article will be published soon.

    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.

    Keywords: PGAP2 Variants, hyperphosphatasia with impaired intellectual development syndrome, epileptic spasms, Facial malformation, ACTH treatment, Pyridoxine

    Received: 19 Apr 2024; Accepted: 14 Nov 2024.

    Copyright: © 2024 Pan, Ren, Chen and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Bin Ren, Shanghai Nyuen Biotechnology Co., Ltd., Shanghai, China
    Lijuan Chen, Shanghai Nyuen Biotechnology Co., Ltd., Shanghai, China
    Qiang Li, Guiyang Maternal and child Health Care Hospital, Guiyang, China

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