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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Rosello, M

Grupos

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.

Datos de la publicación

ISSN/ISSNe:
2073-4425, 2073-4425

Genes  MDPI

Tipo:
Article
Páginas:
-
PubMed:
38927738
Factor de Impacto:
1,032 SCImago ℠
Cuartil:
Q2 SCImago ℠

Citas Recibidas en Web of Science: 1

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Keywords

  • phosphatidylinositol glycan-class A protein; epileptic encephalopathy; drug resistant epilepsy; X-linked; flow cytometry

Proyectos y Estudios Clínicos

Caracterización clínica de los resultados ómicos: reanálisis, nuevos fenotiposaléicos y nuevos genes patológicos.

Investigador Principal: FRANCISCO MARTÍNEZ CASTELLANO

PI22/00272 . INSTITUTO DE SALUD CARLOS III . 2023

Diagnóstico genético de anomalías estructurales fetales mediante secuenciación del genoma completo: rendimiento diagnóstico en contexto prenatal.

Investigador Principal: LAIA PEDROLA VIDAL

PI22/01127 . INSTITUTO DE SALUD CARLOS III . 2023

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