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Deciphering the premature mortality in PIGA-CDG - An untold story

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  3. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Allan Bayat
  • Marius Kløvgaard
  • Katrine M Johannesen
  • Tahsin Stefan Barakat
  • Anneke Kievit
  • Martino Montomoli
  • Elena Parrini
  • Nicola Pietrafusa
  • Jurgen Schelhaas
  • Marjon van Slegtenhorst
  • Kazushi Miya
  • Renzo Guerrini
  • Lisbeth Tranebjærg
  • Zeynep Tümer
  • Guido Rubboli
  • Rikke S Møller
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OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients have intellectual disability and global developmental delay. Previous reports have suggested that patients with PIGA-CDG have a high risk of premature mortality. This study aimed to evaluate the observed high mortality and the causes of death in PIGA-CDG patients.

METHODS: We reviewed the literature and collected additional unpublished patients through an international network.

RESULTS: In total, we reviewed the data of 88 patients of whom 30 patients born alive were deceased, and the overall mortality before the age of 20 years was 30 % (26/88). Age at death ranged from 15 days to 48 years of life. The median age at death was two years and more than half of the patients deceased in early childhood. The PIGA-specific mortality rate/1000 person-years was 44.9/1000 person-years (95 %, CI 31.4-64.3). There were no cases of definite or probable sudden unexpected death in epilepsy (SUDEP) and half of the patients died due to respiratory failure (15/30, 50 %) or possible SUDEP (3/30, 10 %). Three patients (10 %) died from severe cardiomyopathy, liver failure and gastrointestinal bleeding, respectively. The cause of death was unclassified in nine patients (30 %). Autopsies were rarely performed and the true cause of death remains unknown for the majority of patients.

SIGNIFICANCE: Our data indicate an increased risk of premature death in patients with PIGA-CDG when compared to most monogenic developmental and epileptic encephalopathies.

Original languageEnglish
JournalEpilepsy Research
Volume170
Pages (from-to)106530
ISSN0920-1211
DOIs
Publication statusPublished - 1 Feb 2021

    Research areas

  • Cardiomyopathy, Early cardiopulmonary death, Early infantile epileptic encephalopathy, Glycosylphosphatidylinositol biosynthesis defects, Mortality, PIGA, SUDEP

ID: 61948864