Publications by authors named "C Martin-Grau"
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.
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- 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.
Article Synopsis
- Genome-wide prenatal cell-free DNA (cfDNA) screening can detect various fetal chromosomal anomalies, including common trisomies and rare autosomal aneuploidies, based on a study of 6,000 pregnant patients in Spain.
- Out of the patients screened, 3.3% were identified as high-risk, with specific incidences noted for trisomy 21, 18, 13, and other anomalies, leading to effective calculations of positive predictive values (PPVs) for each condition.
- The study also tracked pregnancy and birth outcomes, revealing that some anomalies were linked to adverse conditions like preeclampsia and preterm birth, highlighting the effectiveness and clinical relevance of cfDNA screening in prenatal care
Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum of phenotypes depending on the gene damaged. To date, the PIGP gene has only been related to Developmental and Epileptic Encephalopathy 55 (MIM#617599) in just seven patients. A detailed medical history was performed in two affected siblings with a multiple malformation syndrome.
View Article and Find Full Text PDFMaternal short-chain fatty acids (SCFAs) play a critical role in fetal development and metabolic programming. However, an important gap in the analysis of such relationships is the lack of reference values in pregnant women. Therefore, we establish serum SCFA percentile reference ranges both early and later in pregnancy in a population from a Mediterranean region of Northern Spain.
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