Early infancy‐onset stimulation‐induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency

Mogami, Yukiko; Suzuki, Yasuhiro; Murakami, Yoshiko; Ikeda, Tomomi; Kimura, Shigeharu; Yanagihara, Keiko; Okamoto, Nobuhiko; Kinoshita, Taroh

doi:10.1684/epd.2018.0956

Cited by 7 publications

(5 citation statements)

References 27 publications

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“…It is noteworthy that PIGL gene variations are also associated with Mabry syndrome (characterized by hypotonia, seizures, intellectual disability, and increased blood levels of tissue nonspecific alkaline phosphatase), which is phenotypically distinct from CHIME syndrome. 3,[11][12][13] Our case illustrates phenotypic/genotypic variations in CHIME syndrome. Exome sequencing was particularly useful for diagnosis, widening the clinical spectrum of CHIME syndrome and enabling accurate genetic counseling.…”

Section: Discussionmentioning

confidence: 73%

“…Consequently, our patient's phenotype provides new data on the clinical spectrum of CHIME syndrome. It is noteworthy that PIGL gene variations are also associated with Mabry syndrome (characterized by hypotonia, seizures, intellectual disability, and increased blood levels of tissue nonspecific alkaline phosphatase), which is phenotypically distinct from CHIME syndrome 3,11–13 …”

Section: Discussionmentioning

confidence: 99%

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Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Rolland

Dubourg

Cospain

et al. 2022

Pediatric Dermatology

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Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder that was initially described by Zunich and Kaye in 1983. 1 This disease entity is related to pathogenic variants in the gene coding for the phosphatidylinositol glycan anchor biosynthesis class L (PIGL) protein (OMIM #280000), an enzyme located at the membrane of the endoplasmic reticulum. PIGL catalyzes the second step in glycosylphosphatidylinositol (GPI) biosynthesis, that is, the de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol. 2 GPI has a critical role in the anchoring of many membrane proteins, some of which are involved in neurogenesis. 3 To date, only eight cases of CHIME syndrome in people with confirmed PIGL variants have been reported. [4][5][6] Given the rarity of this syndrome, data on its clinical features and clinical spectrum are scarce. All six of the cases reported by Ng et al. 4 carried a compound heterozygous variant c.500T>C, p.(Leu167Pro). A second pathogenic variant was identified in 5 of the 6 patients. 4 In the seventh case of PIGL-related CHIME syndrome (reported by Knight Johnson et al. 5 ), the c.500T>C, p.(Leu167Pro) variant was again detected on the first allele but the second allele carried an intragenic deletion of PIGL's exons 4-6. In the eighth case (reported

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Rolland

Dubourg

Cospain

et al. 2022

Pediatric Dermatology

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“…Previous studies have reported the effectiveness of pyridoxine treatment for PIGV [7], PIGO [8], PIGS [9], and PGAP3 [10] deficiencies. However, pyridoxine unresponsiveness has been reported in patients with PIGA [13,26], PIGP [27], PIGL [19], PIGV [28], PIGO [29], PIGT [30], and PGAP2 [31] deficiencies. In the aforementioned patients, there was a heterogeneous treatment effect of pyridoxine even in patients with similar causative genes for IGDs.…”

Section: Discussionmentioning

confidence: 99%

“…All patients presented with decreased CD16 expression on blood granulocytes. Four patients were genetically diagnosed; among them, two exhibited PIGO deficiency [14], while two exhibited PIGL deficiency [19]. Whole-exome sequencing of the other patients revealed no pathogenic mutations, including in causative genes for pyridoxine-dependent epilepsy, including ALDH7A1, ALDH4A1, PLPBP, PNPO, and ALPL.…”

Section: Patientsmentioning

confidence: 97%

High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency

Tanigawa

Nabatame

Tominaga

et al. 2021

Brain and Development

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Objective: We aimed to assess the efficacy and safety of high-dose pyridoxine treatment for seizures and its effects on development in patients with inherited glycosylphosphatidylinositol deficiencies (IGDs).Methods:In this prospective open-label multicenter pilot study, we enrolled patients diagnosed with IGDs using flow cytometry and/or genetic tests. The patients received oral pyridoxine (20-30 mg/kg/day) for 1 year, in addition to previous treatment.Results: All nine enrolled patients (mean age: 66.3 ± 44.3 months) exhibited marked decreases in levels of CD16, a glycosylphosphatidylinositol-anchored protein, on blood granulocytes. The underlying genetic causes of IGDs were PIGO, PIGL, and unknown gene mutations in two, two, and five patients, respectively. Six patients experienced seizures, while all patients presented with developmental delay (mean developmental age: 11.1 ± 8.1 months). Seizure frequencies were markedly (>50%) and drastically (>90%) reduced in three and one patients who experienced seizures, respectively. None of the patients presented with seizure exacerbation. Eight of nine patients exhibited modest improvements in development (P = 0.14). No adverse events were observed except for mild transient diarrhea in one patient.Conclusion: One year of daily high-dose pyridoxine treatment was effective in the treatment of seizures in more than half of our patients with IGDs and modestly improved development in the majority of them. Moreover, such treatment was reasonably safe. These findings indicate that high-dose pyridoxine treatment may be effective against seizures in patients with IGDs, although further studies are required to confirm our findings.

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“…Apart from patients with focal onset there was also one with unknown onset of seizures. Other symptoms identified in presented GPIBD5 included intellectual (5/5) and motor (4/5) development delay, cerebellar atrophy (3/5), nystagmus, and strabismus (1/5; in the same subject) (46)(47)(48).…”

Section: Pigl (Phosphatidylinositol Glycan Anchor Biosynthesismentioning

confidence: 99%

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

et al. 2022

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Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations of their structure and function in these disorders impair often fundamental processes in cells, resulting in severe clinical image. This study aimed to provide a systematic review of GPIBD cases reports published in English-language literature.Methods: The browsing of open-access databases (PubMed, PubMed Central. and Medline) was conducted, followed by statistical analysis of gathered information concerning neurological symptomatology. The inclusion criteria were: studies on humans, age at onset (<18 y.o.), and report of GPIBD cases with adequate data on the genetic background and symptomatology. Exclusion criteria were: publication type (manuscripts, personal communication, review articles); reports of cases of GPI biosynthesis genes mutations in terms of other disorders; reports of GPIBD cases concentrating on non-neurological symptoms; or articles concentrating solely on the genetic issues of GPI biosynthesis. Risk of bias was assessed using Joanna Brigs Institute Critical Appraisal Checklists. Data synthesis was conducted using STATISTICA 13.3.721.1 (StatSoft Polska Sp. z.o.o.). Used tests were chi-square, Fisher's exact test (for differences in phenotype), and Mann-Whitney U test (for differences in onset of developmental delay).Results: Browsing returned a total of 973 articles which, after ruling out the repetitions and assessing the inclusion and exclusion criteria, led to final inclusion of 77 articles (337 GPIBD cases) in the analysis. The main outcomes were prevalence of neurological symptoms, onset and semiology of seizures and their response to treatment, and onset of developmental delay. Based on this data a synthesis of phenotypical differences between the groups of GPIBD cases and the general GPIBD cases population was made.Discussion: A synthetical analysis of neurological components in clinical image of GPIBD patients was presented. It highlights the main features of these disorders, which might be useful in clinical practice for consideration in differential diagnosis with children presenting with early-onset seizures and developmental delay. The limitation of this review is the scarcity of the specific data in some reports, concerning the semiology and onset of two main features of GPIBD.

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Early infancy‐onset stimulation‐induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency

Cited by 7 publications

References 27 publications

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

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