Publications by authors named "Margaux Serey-Gaut"
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.
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- HDR syndrome is a rare genetic disorder characterized by hypoparathyroidism, hearing loss, and kidney abnormalities, caused by specific variants in the GATA3 gene.
- The study reviewed 28 patients and the existing literature, revealing that some conditions typically seen as rare, like genital malformations, are more common than previously thought.
- The research identified patterns in GATA3 variants and highlighted the importance of early hearing assessments and continuous monitoring of parathyroid function and urinary issues to prevent complications in affected individuals.
Article Synopsis
- Cochleovestibular dysfunctions are uncommon and often misdiagnosed, with a specific genetic mutation linked to these conditions.
- A pathogenic variant in the RIPOR2 gene was found in Tunisian siblings who have severe hearing and balance issues.
- Unlike the patients, animal models with Ripor2 mutations (like mice and zebrafish) maintain normal vestibular function, highlighting differences in how this mutation affects different species.
Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable distinguishing feature. Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.
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- - Childhood hearing impairment can arise from various external factors, not including infections in the middle ear.
- - Some key causes include conditions affecting the embryo and fetus (embryofoetopathy), meningitis, physical injuries (trauma), harmful effects from medications (drug ototoxicity), and exposure to loud sounds (noise trauma).
- - Understanding these extrinsic causes is crucial for prevention and treatment strategies in managing hearing loss in children.
Article Synopsis
- The study investigates the prevalence of benign paroxysmal positional vertigo (BPPV) in patients with congenital mild to moderate hearing loss linked to deletions of the STRC gene (DFNB16).
- It was conducted as an observational study involving 64 patients, with 39% diagnosed with BPPV, and a median age of first symptoms being 13 years.
- The findings suggest a potential connection between BPPV and hearing loss associated with STRC gene deletions, highlighting the importance of informing patients about this risk for better management.
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T (TTT) complex that modulates activity of phosphatidylinositol 3-kinase-related protein kinases (PIKKs), including mTOR, ATM, and ATR, by regulating the assembly of mTOR complex 1 (mTORC1). The TTT complex is essential for the expression, maturation, and stability of ATM and ATR in response to DNA damage. TELO2- and TTI2-related bi-allelic autosomal-recessive (AR) encephalopathies have been described in individuals with moderate to severe intellectual disability (ID), short stature, postnatal microcephaly, and a movement disorder (in the case of variants within TELO2).
View Article and Find Full Text PDFThe clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel-Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development.
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