De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapping developmental anomalies, and who all have de novo missense FBXW11 variants identified by whole exome or whole genome sequencing and not reported in the gnomAD database. Their phenotypes include striking neurodevelopmental, digital, jaw, and eye anomalies, and in one individual, features resembling Noonan syndrome, a condition caused by dysregulated RAS signaling.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research

Related Links:

Aposematic organisms couple conspicuous warning signals with a secondary defense to deter predators from attacking. Novel signals of aposematic prey are expected to be selected against due to positive frequency-dependent selection. How, then, can novel phenotypes persist after they arise, and why do so many aposematic species exhibit intrapopulation signal...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research
Background and Objectives: Major trauma centres manage severely injured patients using multi-disciplinary teams but the evidence-base that targeted Trauma Team Training (TTT) improves patients' outcomes is unclear. This systematic review aimed to id...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Disaster Preparedness Source Type: news
Authors: Demir K, Konakçı E, Özkaya G, Kasap Demir B, Özen S, Aydın M, Darendeliler F Abstract Many new features have recently been incorporated to ÇEDD Çözüm / Child Metrics, an online and freely accessible scientific toolset. Various auxological assessments can now be made with data of children with genetic diseases (Prader Willi syndrome, Noonan syndrome, Turner syndrome, Down syndrome, and Achondroplasia) and preterm and term newborns. More detailed reports for height, weight, and body mass index (BMI) data of a given child are now available. Last but not least, office...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Melis Digilio Tartaglia Marino De Luca The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anoma...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Conclusions: Despite few publications related to TTT, its introduction was associated with improvements in time to critical interventions. Whether such improvements can translate to improvements in patient outcomes remains unknown. Further research focusing on the translation of standardised trauma team reception "actions" into TTT is required to assess the association between TTT and patient outcome. PMID: 31480360 [PubMed - in process]
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
Traumatic cauda equina injury (TCEI) is usually caused by spine injury at L1 or below, and can result in motor and/or sensory impairments and/or neurogenic bowel and bladder.
Source: The Spine Journal - Category: Orthopaedics Authors: Source Type: research
As the incidence of traumatic spinal cord injury (tSCI) in the elderly rises, clinicians are frequently faced with difficult decisions regarding the goals of management and the need to discuss prognosis with the patient and their families. Traumatic spinal cord injury can have potentially devastating consequences, particularly in an elderly population.
Source: The Spine Journal - Category: Orthopaedics Authors: Source Type: research
ConclusionPlacement of Leukosorb paper is relatively site ‐specific for olfactory proteins and it is feasible to collect a variety of olfactory cleft proteins that correlate with olfactory function. Further study is required to determine mechanisms of OD in non‐CRS subjects.
Source: International Forum of Allergy and Rhinology - Category: Allergy & Immunology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Source: Food Additives and Contaminants Part A - Category: Food Science Authors: Source Type: research
Our patient is a 12-year-old girl with history of leptomeningeal glioneuronal tumors, hydrocephalus with ventriculoperitoneal shunt, seizure disorder, and intellectual delay. Multiple caf é-au-lait patches and axillary freckling led to diagnosis of neurofibromatosis-1 in early childhood; however, subsequent genetic testing failed to confirm the diagnosis. At age 9, she was referred to dermatology for onset of several firm dermal nodules on her torso and proximal extremities, which w ere biopsied revealing cutaneous granular cell tumors (GCTs).
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
More News: Brain | Databases & Libraries | Genetics | Neurology | Noonan Syndrome