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Predicting recombination suppression outside chromosomal inversions in Drosophila melanogaster using crossover interference theory
Recombination suppression in chromosomal inversion heterozygotes is a well-known but poorly understood phenomenon. Surprisingly, recombination...
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Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1
Autosomal recessive spinocerebellar ataxia 13 (SCAR13) is a neurological disease characterized by psychomotor delay, mild to profound intellectual...
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Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review
BackgroundLinkeropathies refers to a series of extremely rare hereditary connective tissue diseases affected by various glycosyltransferases in the...
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Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice
Neurogenetic disorders, such as neurofibromatosis type 1 (NF1), can cause cognitive and motor impairments, traditionally attributed to intrinsic...
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Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma
BackgroundLynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes.
Case presentationAnalysis of a pediatric...
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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset...
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Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders
Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental...
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Clinical characteristics of BRAT1-related disease: a systematic literature review
BackgroundBRAT1 (BRCA1-associated ataxia telangiectasia mutated activator 1) is involved in many important biological processes, including DNA damage...
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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring...
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Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
BackgroundPerrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients...
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
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Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)
Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an extremely rare, autosomal recessive...
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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
CYP26B1 metabolizes retinoic acid in the develo** embryo to regulate its levels. A limited number of individuals with pathogenic variants in CYP26B1 ...
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Frequency and Genetic Profile of Compound Heterozygous Friedreich’s Ataxia Patients—the Brazilian Experience
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It is caused by a homozygous GAA expansion in the...
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Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
PurposeThe MRE11-RAD50-NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. Pathogenic variants in NBN and MRE11 ...
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Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets
BackgroundDNA repair deficiencies are characteristic of cancer and homologous recombination deficiency (HRD) is the most common. HRD sensitizes...
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MHC/HLA Class-I Loss and Cancer Immune Escape
This chapter is about the progress made in the clinical application of tumour immunology. It describes the discovery of tumour antigens recognized by...
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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
BackgroundGordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and...
