Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.
Genes (Basel)
; 15(6)2024 Jun 18.
Article
en En
| MEDLINE
| ID: mdl-38927738
ABSTRACT
Germline variants in the phosphatidylinositol glycan class A (PIGA) gene, which is involved in glycosylphosphatidylinositol (GPI) biosynthesis, cause multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) with X-linked recessive inheritance. The available literature has described a pattern of almost 100% X-chromosome inactivation in mothers carrying PIGA variants. Here, we report a male infant with MCAHS2 caused by a novel PIGA variant inherited from his mother, who has a non-skewed pattern of X inactivation. Phenotypic evidence supporting the pathogenicity of the variant was obtained by flow-cytometry tests. We propose that the assessment in neutrophils of the expression of GPI-anchored proteins (GPI-APs), especially CD16, should be considered in cases with variants of unknown significance with random X-inactivation in carrier mothers in order to clarify the pathogenic role of PIGA or other gene variants linked to the synthesis of GPI-APs.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Inactivación del Cromosoma X
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Proteínas de la Membrana
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Hipotonía Muscular
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Genes (Basel)
Año:
2024
Tipo del documento:
Article
País de afiliación:
España