The latest medical research on Clinical Genetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical genetics gathered by our medical AI research bot.

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Correction to: Reducing macrophage numbers alleviates temporomandibular joint ankylosis.

Cell and Tissue Research

The article "Reducing macrophage numbers alleviates temporomandibular joint ankylosis", written by Lu Zhao, E Xiao, Linhai He, Denghui Duan, Yang H...

"Reversed polarization" of Na/K-ATPase-a sign of inverted transport in the human endolymphatic sac: a super-resolution structured illumination microscopy (SR-SIM) study.

Cell and Tissue Research

The human endolymphatic sac (ES) is believed to regulate inner ear fluid homeostasis and to be associated with Meniere's disease (MD). We analyzed ...

VGF peptides as novel biomarkers in Parkinson's disease.

Cell and Tissue Research

Parkinson's disease (PD) is characterized by a progressive degeneration of dopaminergic neurons in the substantia nigra (SN). At disease onset, a d...

The equine asthma model of airway remodeling: from a veterinary to a human perspective.

Cell and Tissue Research

Human asthma is a complex and heterogeneous disorder characterized by chronic inflammation, bronchospasm and airway remodeling. The latter is a maj...

A new NOTCH3 damaging variant in a thrombocytopenia family of Miao ethnic group.

J Gene Med

Pediatric inherited Thrombocytopenia, also known as a deficiency of platelets in children, is caused by genetic factors and is hard to obtain effective treatment. Thus, it is necessary to identify possible genetic variants responsible for the thrombocytopenia.

The whole exome sequencing (WES) was used to detect genetic variants in two members of a thrombocytopenia family of Miao ethnic group. Multiple in silico analyses were performed to evaluate the effects of the novel missense variants.

Finally, a novel variant (chr19: g.15170364G>A) in NOTCH3 gene was found and confirmed with the Sanger sequencing, which could result in R1694Q substitution in the protein. This variant was consistently suggested to be damaging by the SIFT, PolyPhen and Mutation Taster. Through building the 3D model of the key region of NOTCH3 protein and performing the structure simulation, we found that 1) this variant affected the 3D structure model with the RMSD =0.46 between wild type and mutant type. 2) this variant caused the protein reduce the solvent accessible surface area by 421 Å2 . 3) compared with the wild type protein, the mutant protein had less two amino acids to maintain protein stability.

A novel damaging variant in NOTCH3 gene was identified in a thrombocytopenia family to decrease the stability of NOTCH3, which may help the prognosis and therapy of inherited Thrombocytopenia.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med

Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292).

We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships.

Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment.

De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.

A haplotype-specific linkage disequilibrium pattern of monoamine oxidase A gene associated with regular smoking in women.

J Gene Med

Cigarette smoking in women is raising a public health problem. The X-linked monoamine oxidase A (MAOA) was considered as a susceptibility gene to substance abuse of tobacco, but the evolutionary effect of MAOA may lead to a positive or negative association between genetic variations and smoking development among study regions.

Based on linkage disequilibrium (LD), we performed a haplotype-based association to explore the effect of MAOA gene on women's smoking risk in a case-control study.

Genotyped single nucleotide polymorphisms (SNPs) of MAOA gene, rs5953210G>A, rs2283725A>G and rs1137070T>C, were significantly associated with current smoking risk in women, and the increased level of plasma MAO-A activity was raised with per copy increment of risk allele in current smokers (p < 0.01). The haplotype patterns with minor haplotype frequency > 0.05 were constructed using the Expectation-Maximization algorithm, and the haplotype-specific A-G-C pattern raised the 2-fold risk to develop regular smoking (p = 0.0005). In the diplotype analysis based on X-inactivation mechanism relative to no and full dosage compensation, we showed that A-G-C haplotype not only increased regular smoking risk in a dose-dependent manner (Ptrend = 0.0011) but also contributed to smoking risk in the dosage compensation mechanism. Compared to non-smokers, the effect of A-G-C haplotype in random X-activation was associated with the raised MAO-A activity in women smokers (p < 0.05) although the lifetime cigarette consumption showed a difference that was not statistically significant.

This study provides information on MAOA LD-based haplotype and diplotype patterns in women smoking.

Mechanism of anchorage-independency and tumor formation of cancer cells: possible involvement of cell membrane-bound laminin-332.

Cell and Tissue Research

Cancer cells are characterized by anchorage-independency and tumor formation. Involvement of laminin-332 in the pathogenesis of cancer has also bee...

Autophagy as a consequence of seasonal functions of testis and epididymis in adult male European bison (Bison bonasus, Linnaeus 1758).

Cell and Tissue Research

The European bison is still an animal endangered with extinction, so by learning factors that regulate its reproduction, we can contribute to the s...

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Genet Med

Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been in widespread clinical use, tremendous strides have been made in understanding the effects of copy-number variants (CNVs) in both affected individuals and the general population. However, continued broad implementation of array and next-generation sequencing-based technologies will expand the types of CNVs encountered in the clinical setting, as well as our understanding of their impact on human health.

To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the technology used to identify them, the American College of Medical Genetics and Genomics has developed the following professional standards in collaboration with the National Institutes of Health (NIH)-funded Clinical Genome Resource (ClinGen) project.

This update introduces a quantitative, evidence-based scoring framework; encourages the implementation of the five-tier classification system widely used in sequence variant classification; and recommends "uncoupling" the evidence-based classification of a variant from its potential implications for a particular individual.

These professional standards will guide the evaluation of constitutional CNVs and encourage consistency and transparency across clinical laboratories.

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.

Genet Med

Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important domains.

Baseline data from the Porphyrias Consortium's Longitudinal Study were obtained for 259 patients, including detailed disease and medical history data, and the following Patient-Reported Outcomes Measurement Information System (PROMIS) scales: anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles. Relationships between PROMIS scores and clinical and biochemical AIP features were explored.

PROMIS scores were significantly worse than the general population across all domains, except depression. Each domain discriminated well between asymptomatic and symptomatic patients with symptomatic patients having worse scores. Many important clinical variables like symptom frequency were significantly associated with domain scores in univariate analyses, showing responsiveness of the scales, specifically pain interference and fatigue. However, most regression models only explained ~20% of the variability observed in domain scores.

Pain interference and fatigue were the most responsive scales in measuring QoL in this AIP cohort. Future studies should assess whether these scales capture longitudinal disease progression and treatment response.