Publications by authors named "C Quelin"
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.
View Article and Find Full Text PDFOptimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.
Acta Obstet Gynecol Scand
October 2024
Article Synopsis
- MRKH syndrome is a serious condition that affects women's reproductive systems and can have other health issues, like kidney problems or heart defects.
- Most women with MRKH have not been thoroughly checked for other related health problems, which is important for their treatment options.
- Some women with MRKH may be able to get a uterine transplant, but many do not meet the criteria to be eligible for this procedure.
Article Synopsis
- Glutathione synthetase deficiency is a rare genetic disorder caused by mutations in the GSS gene, leading to varying severity levels, from mild hemolytic anemia to severe neurological issues and even neonatal death.
- A study on two fetal siblings revealed multiple congenital anomalies, such as limb malformations, cleft palate, and heart defects, linked to specific genetic variants in the GSS gene.
- Genome sequencing and analysis indicated that these genetic variants likely caused disruptions in protein expression and metabolic processes, suggesting a broader range of phenotypic effects associated with glutathione synthetase deficiency.
Article Synopsis
- Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
- A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
- Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.