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

Autor:	Gabaldon-Albero A; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Cordon L; Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain., Sempere A; Hematology Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 20029 Madrid, Spain.; Hematology and Hemotherapy Service, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Pedrola L; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Martin-Grau C; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Oltra S; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Monfort S; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Caro-Llopis A; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Dominguez-Martinez M; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Hernandez-Muela S; Pediatric Neurology Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Rosello M; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Orellana C; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain., Martinez F; Translational Genetics Research Group, Instituto de Investigacion Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2024 Jun 18; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 18.
DOI:	10.3390/genes15060802
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. Competing Interests: The authors declare no conflicts of interest.
Databáze:	MEDLINE
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