Delineation of the phenotypic spectrum associated to PIGW bi-allelic variants and study of a genotype-phenotype correlation

Targeted gene/phenotype:

PIGW (OMIM : #610275) – Glycosylphosphatidylinositol biosynthesis defect 11 (OMIM : #616025)

Summary :

Bi-allelic pathogenic variants in PIGW cause autosomal recessive glycosylphosphatidylinositol-11 biosynthesis defect, belonging to congenital disorders of glycosylation (CDG). To date, eight patients (two foetuses and six children) have been described in the literature. Affected individuals present with developmental delay, intellectual disability and epilepsy. Some show other findings such as facial dysmorphism and elevated phosphatases alcalines. We would like to collect a cohort of patients in order to better specify the phenotypic spectrum due to bi-allelic variants within PIGW and to study a possible genotype-phenotype correlation.

Coordinating clinician:

Gladys Battisti, MD

Isabelle Maystadt, MD, PhD

Institution (dept, hospital, City):

Centre de Génétique Humaine

Institut de Pathologie et de Génétique (IPG)

Avenue Georges Lemaître 25

6041 Charleroi, Belgium

Contact email:

gladys.battisti@ipg.be

isabelle.maystadt@ipg.be

Specific requirements beyond clinical data and genotype data sharing:

Re-analysis of DNA samples: No (or in a second phase, depending on the success of the cohort study)

Resampling of patients: No (or in a second phase, depending on the success of the cohort study)

Linked to a translational/basic research project: Yes