Publications by authors named "Sara Hernandez-Muela"
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFBackground/objectives: Developmental and epileptic encephalopathy 9 (DEE9) (MIM #300088) affects heterozygous females and males with somatic pathogenic variants, while male carriers with hemizygous pathogenic variants are clinically unaffected. There are hundreds of pathogenic single nucleotide variants in the gene reported in the literature, which lead to the loss of function of the PCDH19 protein. To date, no phenotypes associated with overexpression or copy number gains have been described in this gene.
View Article and Find Full Text PDFArticle Synopsis
- Germline variants in the phosphatidylinositol glycan class A gene lead to MCAHS2, a syndrome marked by multiple congenital anomalies, seizures, and hypotonia, inherited in an X-linked recessive manner.
- A case study presents a male infant with MCAHS2 due to a novel variant from his mother, who exhibited a non-skewed pattern of X-chromosome inactivation, which is uncommon in typical cases.
- The study suggests using flow-cytometry tests to assess GPI-anchored protein expression, particularly CD16, in neutrophils of carrier mothers with random X-inactivation to better understand the pathogenic implications of gene variants affecting GPI-APs.