Sylvie Odent

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome

Alicia Coudert, Pauline Le Tanno, William Dufour, Patrick Edery et autres

Background Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsible for Smith-Magenis syndrome (SMS). Hitherto, …

fr (code pays fourni par la source)

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

Eunhye Lee, Seungmin Sim, Hee-Jung Choi, Eugene Y Liang et autres

SUPT16H encodes a subunit of the FACT (FAcilitates Chromatin Transcription) complex, a histone chaperone essential for maintaining chromatin integrity during transcription, replication, and DNA repair. Pathogenic de novo SUPT16H missense variants have previously been linked to neurodevelopmental disorders in eight individuals. Here, …

kr, us, il, ca, au, fr, ch, Éthiopie (code pays fourni par la source)

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Pleuntje J. van der Sluijs, M. Gösgens, Alexander J.M. Dingemans, Pasquale Striano et autres

Purpose: -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: -related disorder were collected through an online questionnaire completed by clinicians and parents. Results: were included. Cognitive …

nl, it, fr, de, us, sa, se, dk, gb, ca, sk, be, tr, cn (code pays fourni par la source)

Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

J. den Hoed, Elke de Boer, Norine Voisin, Nicolas Guex et autres

International audience

nl, ch, us, fr (code pays fourni par la source)

Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Antonio Vitobello, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Yannis Duffourd et autres

International audience

fr, Mali (code pays fourni par la source)

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman, A.C. Mazery, A. Visier, Clarisse Baumann et autres

Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. …

fr, re (code pays fourni par la source)

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

Mathilde Lefebvre, Damien Sanlaville, Nathalie Marle, Christel Thauvin‐Robinet et autres

Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate …

fr (code pays fourni par la source)

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

David Alexandre Dyment, Jørn Vegard Sagen, Judith St‐Onge, Ute Moog et autres

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT …

fr, ca, no, de, cn, hk, gb, es, au, us (code pays fourni par la source)

Fetal phenotypes in otopalatodigital spectrum disorders

Sophie Naudion, Sébastien Moutton, Isabelle Coupry, Guilhem Solé et autres

Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features including brain malformations, cleft palate, cardiac …

fr (code pays fourni par la source)

SFP CO-09 - L’allaitement maternel dans la phénylcétonurie

Clotilde Livrozet, M. Tardieu, Sylvie Odent, Mike Barth et autres

fr (code pays fourni par la source)

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Christèle Dubourg, Frédérique Bonnet‐Brilhault, Annick Toutain, Cyril Mignot et autres

Smith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep disturbance, self-injurious behaviors and dysmorphic features. It is estimated to occur in 1/25,000 births, and in 90% of cases it is associated with interstitial deletions of chromosome 17p11.2. RAI1 (retinoic acid induced …

fr (code pays fourni par la source)

Front & Back Matter

Siham Chafai Elalaoui, Intza Garin, Abdelaziz Sefiani, Guiomar Pérez de Nanclares et autres