Department of Oral and Maxillofacial Surgery, School of Stomatology, the Fourth Military Medical University, Xi'an, Shaanxi Province, People's Republic of China.
Published: September 2012
AI Article Synopsis
Article Abstract
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene. In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-related disorders: EEC, Ectrodactyly-ectodermal dysplasia (EE), isolated ectodermal dysplasia, and isolated Split Hand/Foot Malformation type 4 (SHFM4). Genotype-phenotype and DBD structural modeling analysis showed that the K193-located loop L2-A is associated with R280 through hydrogen bonding interactions, while R280 mutations also often cause large phenotypic variability of EEC and SHFM4. Thus, we speculate that K193 and several other DBD mutation-associated syndromes may share similar pathogenic mechanisms, particularly in the case of the same mutation with different phenotypes. Our study and others also suggest that the phenotypic variability of EEC is attributed, at least partially, to genetic and/or epigenetic modifiers.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
AbstractLarge-scale temporal and spatial biodiversity patterns have traditionally been explained by multitudinous particular factors and a few theories. However, these theories lack sufficient generality and do not address fundamental interrelationships and coupled dynamics among resource availability, community abundance, and species richness. We propose the equilibrium theory of biodiversity dynamics (ETBD) to address these linkages.
AbstractChanging climates are driving population declines in diverse animals worldwide. Winter conditions may play an important role in these declines but are often overlooked. Animals must not only survive winter but also preserve body condition, a key determinant of growing season success.
Background: Bipartite medial cuneiform bone (BMC) is located at the Lisfranc joint of the midfoot, and it represents a rare variant involving two separate ossification centers in the medial cuneiform bone. Although BMC is typically asymptomatic, it can become clinically relevant under conditions of trauma or chronic stress, affecting foot stability.
Case Report: The current imaging report describes a 48-year-old female presenting with chronic dorsal midfoot pain, worsened by extended standing and ambulation.
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.
