A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D'Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano

Genes 2023 Jul 14

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Glycosylphosphatidylinositol biosynthesis defect 15 is a rare autosomal recessive disorder due to biallelic loss of function of GPAA1. At the moment, less than twenty patients have been reported, usually compound heterozygous for GPAA1 variants. The main clinical features are intellectual disability, hypotonia, seizures, and cerebellar atrophy. We describe a 4-year-old male with a novel, homozygous variant. The patient presents with typical features, such as developmental delay, hypotonia, seizures, and atypical features, such as macrocephaly, preauricular, and cheek appendages. When he was 15 months, the cerebellum was normal. When he was 33 months old, after the molecular diagnosis, magnetic resonance imaging was repeated, showing cerebellar atrophy. This case extends the clinical spectrum of the GPAA1-related disorder and helps to delineate phenotypic differences with defects of other subunits of the transamidase complex.

Citation

Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D'Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano. A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect. Genes. 2023 Jul 14;14(7)