Publications by authors named "Satre Veronique"
Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes. Among them, PPP1R13L is associated with a recessive syndrome leading to cardiac anomalies with skin, teeth, and hair abnormalities.
View Article and Find Full Text PDFAlazami syndrome is an autosomal recessive disease characterized by global developmental delay, growth restriction, and distinctive facial features. Fewer than 50 individuals are currently reported with biallelic loss of function variants in LARP7. We report the case of a 3.
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- * A collaboration via GeneMatcher discovered new cases, including a female patient with complete situs inversus and other health issues linked to the MNS1 variants.
- * The findings also included sibling fetuses with different MNS1 mutations, contributing to a better understanding of this rare malformation syndrome.
Article Synopsis
- Small RNAs, particularly piRNAs, are essential for male germ cell development, with disruptions leading to male infertility through issues like spermatogenic defects and oligo-astheno-teratozoospermia (OAT).
- The HENMT1 gene is critical for the biogenesis of piRNAs, and its dysfunction can cause severe sperm abnormalities and infertility, as seen in both knockout mice and patients with HENMT1 variants.
- The study aimed to explore the potential for using sperm from two patients with HENMT1 variants in assisted reproductive technologies, but despite thorough analyses and multiple IVF-ICSI attempts, no live births were achieved.
Article Synopsis
- - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
- - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
- - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
Article Synopsis
- * Researchers discovered homozygous variants linked to the condition in four unrelated patients, which disrupted the localization of certain proteins essential for sperm flagellum function.
- * The study identified ZMYND12 as a new gene associated with asthenoteratozoospermia, which forms a complex with other proteins critical for sperm motility, affecting male fertility.
Article Synopsis
- Reciprocal translocation (RT) carriers have a higher risk of infertility, miscarriages, and children with health issues due to the production of unbalanced gametes.
- Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) can help minimize these risks, but there are concerns about the effectiveness of sperm fluorescence in situ hybridization (spermFISH) as a diagnostic tool for RT carriers.
- A study of 41 RT carriers indicated that acrocentric chromosomes lead to more unbalanced gametes, and the variability in balanced sperm rates suggests that using spermFISH routinely may not be beneficial for these patients.
Article Synopsis
- Male infertility, specifically the MMAF phenotype, involves severe sperm flagellum defects linked to multiple genetic factors, with around 40 known associated genes.
- In a study of 167 MMAF patients, researchers identified new pathogenic mutations in the DNHD1 gene, previously recognized for its role in this condition, highlighting its crucial function for sperm flagellum structure.
- Advanced imaging techniques confirmed significant abnormalities in sperm cells from mutated patients, reinforcing the importance of understanding these genetic mutations for diagnosing unexplained cases of male infertility.
Article Synopsis
- Oculo-auriculo-vertebral spectrum (OAVS) is a common cause of congenital head and neck malformations in children, characterized by a variety of defects including ear anomalies, facial asymmetry, and ocular problems, often linked to genetic factors.
- An international study of 17 OAVS patients identified a significant genetic microduplication, revealing a critical region associated with these malformations and highlighting the severity of ear deformities in affected individuals.
- Research using zebrafish models showed that overexpression of the implicated gene impacts early craniofacial development, underscoring the importance of correct gene dosage for proper formation of facial structures.
Article Synopsis
- A recent study focuses on patients with a microduplication in the 19p13.3 region, linked to issues like growth delays, small head size, and developmental delays.
- The research analyzes a large cohort of 24 patients using advanced genomic techniques to better understand the genetic basis of this syndrome.
- The study identifies a new critical region (CR 1) associated with the duplication, which affects gene interactions critical for normal developmental processes, particularly related to head size.
Article Synopsis
- Chromosomal microarray (CMA) is currently the preferred diagnostic tool for rare disorders, detecting copy number variations (CNVs) with a yield of 10%-20%, though whole exome sequencing (WES) and genome sequencing (WGS) are also available.
- This study compares the effectiveness of CMA against GATK4 exome sequencing in identifying coding CNVs, utilizing a cohort of 615 individuals for validation and 2418 for a prospective analysis.
- Results show that WES can improve diagnostic yield by a slight margin when used alongside SNV detection, suggesting it may be more beneficial to reevaluate CNVs before proceeding to WGS after inconclusive CMA or WES results.
Article Synopsis
- - Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a serious birth defect often linked with other abnormalities, but genetic testing only confirms a diagnosis in a small percentage of cases.
- - In a study involving 67 patients, only 11 (16%) received a definitive or probable genetic diagnosis, indicating that the reasons behind EA/TEF may be more complex and involve multiple genetic and environmental factors.
- - The research identified specific genetic variants related to certain genes (like TCF4 and FANCA) that may contribute to the EA/TEF conditions, providing new insights into its development.
Article Synopsis
- Numerical chromosomal aberrations in sperm are a leading cause of infertility and developmental issues in mammals, including primates; however, their prevalence in non-human primates like chimpanzees is not well studied.
- This research investigates sperm aneuploidy in chimpanzees using custom probes and sperm-FISH analysis on over 10,000 sperm nuclei, revealing specific rates of disomy and gamete proportions.
- The findings represent the first comprehensive overview of sperm aneuploidy in non-human primates, enhancing understanding of its origins and mechanisms.
Article Synopsis
- Sperm cells have a head and a flagellum, and problems with the flagellum structure can lead to male infertility, particularly a condition called Multiple Morphological Abnormalities of the Flagella (MMAF).
- Research on a group of infertile men with MMAF revealed that many cases still lack identified causes, but a specific gene called CFAP206 was linked to severe sperm motility defects in one individual.
- Experiments using CRISPR-Cas9 to create mice lacking CFAP206 confirmed that this gene is crucial for proper flagellum function and structure, demonstrating that mutations in CFAP206 can result in male infertility and potential failures in assisted reproductive technologies like ICSI.
Article Synopsis
- Globozoospermia is a type of male infertility characterized by round-headed sperm that lack an acrosome, with genetic anomalies in the DPY19L2 gene accounting for 50-70% of cases, often due to complete gene deletions.* -
- A study involving 69 patients found that 36% had homozygous deletions of the DPY19L2 gene, and even higher proportions of genetic defects correlated with increased rates of globozoospermia, indicating a strong relationship between genotype and phenotype.* -
- The study suggests a new diagnostic approach focusing on patients with over 50% globozoospermia by initially testing for DPY19L2 deletions using
Article Synopsis
- Atypical fetal chromosomal anomalies (ACAs) are more common than thought and can impact fetal development, hence a new screening strategy for non-invasive prenatal testing (NIPT) was developed.
- The screening was tested on two cohorts: Cohort A with 192 plasma samples (42 with ACAs) evaluated the test's performance, showing an 88.1% sensitivity and 99.3% specificity.
- In Cohort B, involving 3,097 pregnant women, there was a 1.2% positive result rate for anomalies, indicating that this genome-wide NIPT can effectively screen for ACAs while requiring minimal additional invasive tests, especially for at-risk women.
Article Synopsis
- Multiple morphological abnormalities of the flagella (MMAF) cause male infertility due to asthenozoospermia, which is characterized by reduced or absent sperm motility.
- This study involved exome sequencing of 167 infertile men with MMAF, leading to the identification of deleterious variants in the MAATS1 gene, critical for proper sperm flagellum structure.
- Results indicated that the CFAP91 protein, associated with MAATS1, is essential for sperm flagellum function, and its variants can lead to severe sperm defects and male infertility.
Article Synopsis
- High-throughput sequencing has identified multiple mutations in genes linked to severe astheno-teratozoospermia (MMAF), but over half of cases have unexplained genetic defects.
- Research on 167 MMAF-affected individuals revealed two patients with a previously unlinked mutation in the CFAP70 gene, which plays a crucial role in sperm flagella.
- Immunofluorescence studies showed absence of CFAP70 and associated proteins in patients' sperm, indicating that loss of CFAP70 function can lead to MMAF, highlighting the importance of ODA-related proteins for sperm flagellum stability and motility.
Article Synopsis
- The text refers to a correction made to a previously published article with the DOI 10.1038/s41525-017-0035-2.
- The correction likely addresses errors or omissions in the original publication.
- This ensures that readers have access to accurate and updated information related to the research discussed in the article.
Article Synopsis
- A study investigated balanced chromosomal rearrangements in patients with intellectual disabilities and congenital anomalies using next-generation sequencing to identify breakpoints at a molecular level.
- The research characterized breakpoints in 55 patients, revealing that 89% of chromosomal rearrangements were detected, with non-homologous end-joining identified as the primary repair mechanism.
- The study found that a diagnosis could be established in about 44.8% of patients, revealing disruptions in genes and suggesting that paired-end whole genome sequencing is effective for clinical applications in structural variation analysis.
Article Synopsis
- * Recent findings indicate that missense variants in the AMMECR1 gene are primarily responsible for most of the AMME syndrome features, excluding Alport syndrome.
- * Two unrelated male patients showed symptoms like short stature and mild intellectual disability due to small microdeletions involving the TMEM164 and AMMECR1 genes, supporting the idea that AMMECR1 haploinsufficiency is key to the syndrome’s symptoms.
Article Synopsis
- Male infertility is a significant health issue, with multiple morphological abnormalities of the flagella (MMAF) being a severe form that causes asthenozoospermia due to irregular sperm flagella.
- Six genes linked to MMAF have been identified; however, many cases remain unexplained, indicating more undiscovered gene defects.
- Whole-exome sequencing revealed that mutations in the ARMC2 gene cause the MMAF phenotype in both humans and mice, highlighting its crucial role in sperm flagellum structure and assembly.
Article Synopsis
- A study of a 26-week-old male fetus with severe intrauterine growth restriction (IUGR) revealed a genetic duplication on chromosome 19 inherited from the father.
- This duplication includes the ZNF331 gene, which is normally imprinted and only expressed from the father's side in the placenta; however, in the fetus, both copies are being expressed.
- The higher expression levels of ZNF331 in the fetus's placental and renal tissues suggest a potential link between this gene and the causes of isolated IUGR, highlighting the utility of chromosomal microarray analysis (CMA) in such cases.
Article Synopsis
- * Previous studies identified that mutations in genes like DNAH1 and CFAP43/44 account for about one-third of MMAF cases, suggesting there are still more genes to discover.
- * The study included genetic analyses and tissue examinations to characterize sperm abnormalities associated with these mutations, highlighting the importance of the FSIP2 gene in sperm development.