Publications by authors named "Le Tanno Pauline"
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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- Transient Bartter syndrome caused by MAGED2 variants is the newest type of antenatal Bartter syndrome and presents as the most severe form during the perinatal period; this study examines 14 new cases and the incomplete penetrance specifically in women.
- The research involved 54 symptomatic patients, revealing a mix of outcomes: 27% resolved symptoms, 41% had ongoing complications, and 32% faced fatality, with common clinical anomalies including renal and cardiovascular issues.
- The findings enhance the understanding of MAGED2’s phenotype and genetics, while also highlighting varying patient outcomes, which informs genetic counseling for affected families.
Article Synopsis
- * The study reports six new biallelic loss-of-function variations in PIEZO1, found through exome sequencing in affected fetuses and a deceased neonate from four families.
- * Most NIHF cases are identify during the second trimester, while post-mortem examinations reveal signs like ascites and pleural effusions that help in diagnosing the underlying cause.
Article Synopsis
- A clinical case illustrates how the antenatal diagnosis of cystinuria uncovered a more complex condition involving renal Fanconi syndrome, hypoglycemia, and liver issues.
- Genetic testing revealed a specific variant linked to the disease, suggesting that ultrasound markers may indicate more severe underlying problems, prompting a reevaluation of genetic counseling for expecting families.
Article Synopsis
- Auriculocondylar syndrome (ACS) is a rare craniofacial disorder featuring an underdeveloped jaw and a unique ear shape called "Question Mark Ear," along with possible additional features from other tissues.
- The genetic basis of ACS includes mutations linked to the endothelin 1 signaling pathway and can be inherited in both dominant and recessive patterns.
- A study of 14 new cases and a reassessment of 25 existing cases identified mutations in PLCB4, GNAI3, or EDN1, highlighting associated anomalies and offering recommendations for patient management.
Article Synopsis
- Andersen-Tawil Syndrome (ATS) is a rare condition associated with heart issues, periodic paralysis, and physical abnormalities, caused by specific gene mutations, but it can be misdiagnosed as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) when external symptoms are not clear.
- CPVT is a dangerous heart arrhythmia linked to a risk of sudden death, and correctly identifying the genetic variants involved is crucial since standard treatments like beta blockers may not work as well.
- The study reports two patients with CPVT-like symptoms and identifies new harmful gene variants, emphasizing the need for thorough cardiac evaluations and recognition of external symptoms to properly differentiate between CPVT and atypical ATS.
Article Synopsis
- Arthrogryposis multiplex congenita (AMC) is a condition characterized by congenital contractures in multiple body areas, with over 400 possible underlying causes, making accurate diagnosis difficult.
- A study at Grenoble University Hospital, including 125 pediatric patients, found that 66% received a definitive diagnosis, with common types being Amyoplasia and distal arthrogryposis.
- The researchers recommend a two-step diagnostic approach using non-invasive methods for initial classification, followed by targeted investigations, while suggesting the use of next-generation sequencing to improve management and reduce reliance on invasive procedures.
Article Synopsis
- - SOX6 is part of a group of genes that encode transcription factors critical for controlling cell behavior during development, with involvement in processes like neurogenesis and skeletogenesis.
- - Research identified 19 individuals from 17 different families with various alterations in the SOX6 gene, all displaying developmental delays and intellectual disabilities, along with other possible features like ADHD and autism.
- - The study found that different types of genetic variants in SOX6, including deletions and missense changes, lead to its inactivation, suggesting that a lack of SOX6 function is linked to a specific neurodevelopmental disorder, though no direct genotype-phenotype relationships were established.
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.
Am J Med Genet C Semin Med Genet
September 2019
Article Synopsis
- Arthrogryposis multiplex congenita (AMC) is a condition characterized by congenital joint contractures caused by reduced fetal movement, which can stem from various issues in the nervous system or muscular systems.
- Diagnosing the specific cause of AMC is challenging due to the complex interplay of bodily structures involved.
- The article reviews common postnatal examinations for AMC and suggests that genetic testing, such as whole exome/genome analysis and chromosomal microarray analysis, should take priority over traditional methods like EMG and muscle biopsies in diagnosing affected patients.
Article Synopsis
- Multiple morphological abnormalities of the sperm flagellum (MMAF) is a serious male infertility issue characterized by various sperm flagella defects, linked to genetic mutations affecting axonemal proteins.
- Researchers analyzed whole-exome sequencing data from 78 affected individuals and discovered a homozygous deletion in the WDR66 gene in 7 cases, indicating a new genetic contributor to MMAF.
- Further experiments, including studies on a related protein in Trypanosoma, demonstrated that this gene deletion impairs flagellar movement, thus confirming WDR66's role in male infertility related to MMAF.
Article Synopsis
- Spermatogenesis issues affect millions of men globally, but many remain undiagnosed.
- The research identified 22 men with primary infertility linked to mutations in genes DNAH1, CFAP43, and CFAP44, confirmed through genetic sequencing.
- CRISPR/Cas9 experiments on mice demonstrated that CFAP43 and CFAP44 are crucial for producing functional sperm flagella, underscoring their importance across different species.
Article Synopsis
- Congenital anomalies of the kidney and urinary tract (CAKUT) are a major health issue for children, often leading to chronic kidney disease, and this study investigates the genetic causes of CAKUT related to a specific microdeletion on chromosome 1.
- Researchers analyzed eight patients with this microdeletion, identifying a gene linked to CAKUT and finding that most had serious kidney conditions and associated developmental issues, particularly in the brain and ears.
- The study emphasizes the role of the identified gene, PBX1, in proper kidney and brain development, recommending genetic testing in cases of kidney abnormalities during pregnancy to aid in counseling and management.
Study Question: Can whole-exome sequencing (WES) of patients with multiple morphological abnormalities of the sperm flagella (MMAF) identify causal mutations in new genes or mutations in the previously identified dynein axonemal heavy chain 1 (DNAH1) gene?
Summary Answer: WES for six families with men affected by MMAF syndrome allowed the identification of DNAH1 mutations in four affected men distributed in two out of the six families but no new candidate genes were identified.
What Is Known Already: Mutations in DNAH1, an axonemal inner dynein arm heavy chain gene, have been shown to be responsible for male infertility due to a characteristic form of asthenozoospermia called MMAF, defined by the presence in the ejaculate of spermatozoa with a mosaic of flagellar abnormalities including absent, coiled, bent, angulated, irregular and short flagella.
Study Design, Size, Duration: This was a retrospective genetics study of patients presenting a MMAF phenotype.
Article Synopsis
- A young child with intellectual disability and coronal craniosynostosis was found to have a balanced translocation between chromosomes 2 and 15, inherited from the mother.
- Further analysis revealed a 3.64 Mb de novo deletion on chromosome 15 that affects the TCF12 gene, linking it to the craniosynostosis observed in the patient.
- The study emphasizes the significance of advanced genetic testing techniques, like array-CGH and FISH, in uncovering complex chromosomal rearrangements and understanding their clinical implications.