| Autor: |
Gabaldon-Albero, Alba, Cordon, Lourdes, Sempere, Amparo, Pedrola, Laia, Martin-Grau, Carla, Oltra, Silvestre, Monfort, Sandra, Caro-Llopis, Alfonso, Dominguez-Martinez, Marta, Hernandez-Muela, Sara, Rosello, Monica, Orellana, Carmen, Martinez, Francisco |
| Předmět: |
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| Zdroj: |
Genes; Jun2024, Vol. 15 Issue 6, p802, 9p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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