دورية أكاديمية
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
| العنوان: | A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17. |
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| المؤلفون: | Mukai T; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato S; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Tanaka H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kuroda Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kitaoka H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Ito A; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Shitara Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kashima K; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Takami H; Department of Neurosurgery, The University of Tokyo Hospital, Tokyo, Japan., Takahashi N; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato M; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan. |
| المصدر: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2452. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]- |
| مواضيع طبية MeSH: | Glycosylphosphatidylinositols*/deficiency , Glycosylphosphatidylinositols*/genetics , Uniparental Disomy*/genetics , Uniparental Disomy*/pathology, Humans ; Male ; Carboxylic Ester Hydrolases ; Frameshift Mutation ; Homozygote ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/pathology ; Phosphorus Metabolism Disorders/genetics ; Phosphorus Metabolism Disorders/pathology ; Receptors, Cell Surface ; Seizures ; Infant, Newborn |
| مستخلص: | Background: Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability, elevated serum alkaline phosphatase (ALP) levels, and distinct facial features. This report presents a patient with inherited GPI deficiency caused by a homozygous frameshift variant of PGAP3 due to uniparental isodisomy (UPiD) on chromosome 17. Method: Clinical characteristics of the patient were collected. Microarray analysis followed by adaptive sampling sequencing targeting chromosome 17 was used for the identification of variants. Sanger sequencing was used to confirm the variant in the target region. Results: The patient was born at 38 weeks of gestation with a birthweight of 3893 g. He had a distinctive facial appearance with hypertelorism, wide nasal bridge, and cleft soft palate. Postnatal head magnetic resonance imaging revealed a Blake's pouch cyst. The serum ALP level was 940 IU/L at birth and increased to 1781 IU/L at 28 days of age. Microarray analysis revealed region of homozygosity in nearly the entire region of chromosome 17, leading to the diagnosis of UPiD. Adaptive sampling sequencing targeting chromosome 17 confirmed the homozygous variant NM_033419:c.778dupG (p.Val260Glyfs*14) in the PGAP3 gene, resulting in a diagnosis of inherited GPI deficiency. Conclusion: This is the first report of inherited GPI deficiency caused by UPiD. Inherited GPI deficiency must be considered in patients with unexplained hyperphosphatasemia. (© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | 23K17188 Japan Society for the Promotion of Science; JP23ek0109549 Japan Agency for Medical Research and Development |
| فهرسة مساهمة: | Keywords: PGAP3; HPMRS; chromosome 17; inherited glycosylphosphatidylinositol deficiency; uniparental isodisomy |
| المشرفين على المادة: | EC 3.1.1.- (Carboxylic Ester Hydrolases) 0 (Glycosylphosphatidylinositols) EC 3.1.1.- (PGAP3 protein, human) 0 (Receptors, Cell Surface) |
| SCR Disease Name: | Glycosylphosphatidylinositol deficiency |
| تواريخ الأحداث: | Date Created: 20240705 Date Completed: 20240705 Latest Revision: 20240713 |
| رمز التحديث: | 20240713 |
| مُعرف محوري في PubMed: | PMC11224963 |
| DOI: | 10.1002/mgg3.2452 |
| PMID: | 38967264 |
| قاعدة البيانات: | MEDLINE |
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