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Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4 . The clinical features...
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Genotype–Phenotype Association in ABCA4-Associated Retinopathy
Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelic ABCA4 variants, and no treatment is available...
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Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability
Understanding the way genes work amongst individuals and across generations to shape form and function is a common theme for many genetic studies....
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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of...
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Hereditary spastic paraplegia: new insights into clinical variability and spasticity–ataxia phenotype, and novel mutations
IntroductionHereditary spastic paraplegias (HSPs), a genetically heterogeneous group of neurodegenerative diseases, have an incidence of around 3 to...
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Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome
BackgroundJuvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated...
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Therapeutic drug monitoring of voriconazole and CYP2C19 phenotype for dose optimization in paediatric patients
PurposeThe objective of this study was to evaluate factors influencing voriconazole (VRC) plasma trough concentrations and provide research data for...
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Variability, heritability and condition-dependence of the multidimensional male colour phenotype in a passerine bird
Elaborate ornamental traits are commonly assumed to be honest signals of individual quality, owing to the presumed costs involved in their production...
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Reactive Microglia and Astrocyte Phenotype Transitions: A Framework
This chapter gives an overview of the reactions of microglia and astrocytes to pathological events. In the focus are the microglia as they are...
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Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review
Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports...
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Genotype–phenotype correlation in PRKN-associated Parkinson’s disease
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN -PD were...
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ACAA2 is a novel molecular indicator for cancers with neuroendocrine phenotype
BackgroundNeuroendocrine phenotype is commonly associated with therapy resistance and poor prognoses in small-cell neuroendocrine cancers (SCNCs),...
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Differences in DNA methylation status explain phenotypic variability in patients with 5p− syndrome
Cri Du Chat syndrome, or 5p− syndrome, is characterized by a terminal or interstitial deletion on the short arm of chromosome 5 that causes variable...
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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder...
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Clinical trajectories and biomarkers for weight variability in early Parkinson’s disease
Unexplained weight changes that occur in Parkinson’s disease (PD), are often neglected and remain a poorly understood non-motor feature in patients...
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The Role of Oxidative Stress in Trisomy 21 Phenotype
Extensive research has been conducted to gain a deeper understanding of the deregulated metabolic pathways in the development of trisomy 21 (T21) or...
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Correlation between the Colony Phenotype and Amino Acid Sequence of the Variable Vaa Antigen in Clinical Isolates of Mycoplasma hominis
A new Mycoplasma hominis phenotype forming mini-colonies (MC) on agar and distinct from the phenotype forming typical colonies (TC) not only in size,...
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Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes
BackgroundThoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the...
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The emerging postural instability phenotype in idiopathic Parkinson disease
Identification of individuals at high risk for rapid progression of motor and cognitive signs in Parkinson disease (PD) is clinically significant....
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Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
Huntington disease (HD) is a neurodegenerative disorder caused by ≥36 CAGs in the HTT gene. Intermediate alleles (IAs) (27–35 CAGs) are not...
