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Oligogenic inheritance in severe adult obesity
Background/objectiveThe genetic architecture of extreme non-syndromic obesity in adults remains to be elucidated. A range of genes are known to cause...
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Oligogenic basis of premature ovarian insufficiency: an observational study
BackgroundThe etiology of premature ovarian insufficiency, that is, the loss of ovarian activity before 40 years of age, is complex. Studies suggest...
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Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants
BackgroundPremature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic...
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Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
Oligogenic inheritance of autism spectrum disorder (ASD) has been supported by several studies. However, little is known about how the risk variants...
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The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
BackgroundKlippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying...
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A pilot study of childhood-onset Takayasu arteritis using whole exome sequencing suggests oligogenic inheritance involving classical complement, collagen, and autoinflammatory pathways
Takayasu arteritis (TA) is a chronic granulomatous inflammatory disease affecting the aorta and its branches. Paediatric TA (pTA) may present from...
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Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
BackgroundCongenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short...
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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to...
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Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies
BackgroundChildhood cancer has a poorly known etiology, and investigating the underlying genetic background may provide novel insights. A recognized...
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Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism
BackgroundIdiopathic hypogonadotropic hypogonadism (IHH) is a type of congenital disease caused by a variety of gene variants leading to dysfunction...
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Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review
PurposeTo describe phenotype-genotype data of Asian-Indian normosmic congenital hypogonadotropic hypogonadism (nCHH) from our centre and perform a...
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The dominant findings of a recessive man: from Mendel’s kid pea to kidney
The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms “dominant”...
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New genetics in congenital hypothyroidism
IntroductionCongenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental...
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Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila
Autism Spectrum Disorder (ASD) is characterized by impaired social communication, restricted interests, and repetitive and stereotyped behaviors. The TRPC6...
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The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients
BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with complex genetic architecture. Emerging evidence has indicated...
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GBA-associated Parkinson’s disease in Hungary: clinical features and genetic insights
IntroductionParkinson’s disease (PD) has a complex genetic background involving both rare and common genetic variants. Although a small percentage of...
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Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
ObjectiveThis study is to determine the incidence of genetic forms of amyotrophic lateral sclerosis (ALS) in clinic-based population.
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Identification of new candidate genes for spina bifida through exome sequencing
PurposeNeural tube defects are a group of birth defects caused by failure of neural tube closure during development. The etiology of NTD, requiring a...
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Interrogating the sepsis host immune response using cytomics
This article is one of ten reviews selected from the Annual Update in Intensive Care and Emergency Medicine 2023. Other selected articles can be...
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Rare disorders have many faces: in silico characterization of rare disorder spectrum
BackgroundThe diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We...
