Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

The Epidemiology, Genetics and Future Management of Syndactyly

Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance

Enhanced Sensitivity of SAW-Based Pirani Vacuum Pressure Sensor

International audienceThe authors have already presented a novel surface acoustic wave device for vacuum pressure measurement by employing a piezoelectric substrate that has a high value of temperature coefficient of frequency. Frequency-shift measurements as a function of vacuum pressure can be used to extract information about the pressure sensitivity of the device. In this paper, we report that the deposition of an aluminum thin-film layer and rise in the sensor's operating temperature significantly improve the sensitivity of the device. The results are crucial for improving the lower limit of the vacuum pressure measurement, which currently stands around 10-3 Pa

Effect of depth etching on Bragg reflectors realized by focused ion beam in Ti:LiNbO3 waveguide

International audienceIn this paper we have studied effect of depth etching on the Bragg gratings (BGs) realized by Focused Ions Beam. This technique has the advantage to induce a direct waveguide structuring without intermediate media, comparing to traditional methods. A reflectivity of 96% within a window centred at 1550 nm is obtained. The effect of the depth etching on the transmittance and the bandwidth at half maximum is demonstrated

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1- mutated patient's management

International audienceSteroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders

International audienc