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Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

AIMS: Multiple morphological abnormalities of the sperm flagella (MMAF) represents a rare and severe form of male infertility, characterized … due to ciliary and flagellar dysfunction. This study investigates the genetic basis of MMAF in two siblings, who also exhibited respiratory symptoms. METHODS: Clinical assessment and semen analysis were conducted for two brothers presenting with infertility and chronic respiratory symptoms. Whole-exome sequencing (WES) was performed to identify potential …

Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience.

OBJECTIVES: This study aimed to identify clinical, laboratory, and radiological features that could serve as red flags for diagnosing inheri … 206 (49.2 %) diagnosed with IMDs. Group 1 had higher rates of consanguineous marriage and affected siblings. Complex molecule disorders (20.4 %), mitochondrial (16.0 %), and lipid metabolism disorders (16.0 %) were the most common IMDs. Dysmorphic findings were more frequent in Group 1 (28.2 vs. 16.3 %, p=0.004), while diarrhea was less common (4.4 vs. 12 …

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.

Ataxia-Telangiectasia (A-T) is a rare, autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and increased cancer risk. Mutations in the ATM gene, which is essential for DNA damage repair, underlie this condition. This study reports a novel homozygous frameshift mutation (ATM_ex20 c.3062delT, p. Val1021fs) in a Chinese family with two affected siblings. The mutation, located in exon 20, has not been previously documented, expanding the spectrum of ATM mutations. The proband and her older sister presented with classic A-T s…

Investigating the Role of Gluten Sensitivity in the Etiology of Autism Spectrum Disorder.

<b>Background and Objective:</b> Autism Spectrum Disorder (ASD) is a range of neurodevelopmental disabilities that lack a clear etiology. To date, studies investigating the role of immune reactivity to gluten in ASD have been inconsistent. This study aimed to compare levels of gluten reactivity markers in 319 ASD patients to 172 of their unaffected siblings and 322 of unrelated healthy controls (UHC). <b>Materials and Methods:</b> Patients younger than 12 years old diagnosed with ASD via experienced child psychiatrists and neuro-pediatricians were recruited and gluten r…

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathogn…

Assessing genetic and environmental components for pterygium: a nationwide study in Taiwan.

This study aims to estimate the familial risks of pterygium and assess its relative contributions to environmental and genetic factors using the 2000-2017 Taiwan National Health Insurance Research Database. The marginal Cox's model and the polygenic liability model were made. In Taiwan, the prevalence rate of pterygium in 2017 was 1.64% for individuals with affected first-degree relatives, higher than the general population (1.34%). The adjusted relative risk (RR) for pterygium was highest for twins of the same sex (15.54), followed by siblings of the same sex (4.69), offsprings (3.39), siblin…

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.

Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA). Impaired GAA function results in the accumulation of undegraded glycogen within lysosomes in multiple tissues but predominantly affects the skeletal, smooth and cardiac muscle. The degree of residual enzymatic activity appears to roughly correlate with the age of onset and the severity of the clinical symptoms. Here, we report four siblings in which the GAA variants NM_000152.5:c.2237G > C p.(Trp746Ser) and NM_000152.5:c.266G >…

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

Primary microcephaly (MCPH) is an autosomal recessive disorder characterized by head circumference of at least two standard deviations below the mean. Biallelic variants in the kinetochore gene KNL1 is a known cause of MCPH4. KNL1 is the central component of the KNL1-MIS12-NSL1 (KMN) network, which acts as the signaling hub of the kinetochore and is required for correct chromosomal segregation during mitosis. We identified biallelic KNL1 variants in two siblings from a non-consanguineous family with microcephaly and intellectual disability. The two siblings carry a frameshift variant predicted…

Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.

Congenital cataract is one of the most genetically heterogeneous ocular conditions with different genes involved in its etiology. Here, we describe the analysis of a new candidate gene of a congenital bilateral cataract associated with polymalformative syndrome, moderate global developmental delay, microcephaly, axial hypotonia, intrauterine growth restriction and facial dysmorphism for two affected siblings. Molecular analysis included exome sequencing and genome wide homozygosity mapping revealed a region of homozygosity shared by the two affected siblings at 10q11.23. The new C10orf71 gene …

Whole exome sequencing in a juvenile idiopathic arthritis large family with SERPINA1 gene mutations.

OBJECTIVES: Although the underlying mechanisms and mediators of arthritis in juvenile idiopathic arthritis are not well understood, accumula … escribed that might be associated with increase susceptibility to JIA. We found a carrier status of siblings who inherited a pathogenic allele of the SERPINA1 gene from their mother who herself has two heterozygous pathogenic variants in the SERPINA1 gene. CONCLUSIONS: This study didn't identify genetic contributive factors but highlights potentially envi …

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer's disease (EOAD). Recently, emerging studies have reported several novel PSEN1 mutations among Asians. In this study, a PSEN1 Val96Phe mutation was discovered in two siblings from Malaysia with a strong family history of disease. This is the second report of PSEN1 Val96Phe mutation among EOAD patients in Asia and in the world. Patients presented symptomatic changes in their behaviors and personality, such as apathy and withdrawal in their 40s. Previous cellular studies with COS1 cell lines revealed the mutation increa…

Prevalence of unruptured intracranial aneurysms among first-degree relatives of Thai patients who had aneurysmal subarachnoid hemorrhage.

BACKGROUND: The prevalence of familial unruptured intracranial aneurysm (UIA) in Thai population was unknown. METHODS: Our study population … val [CI] 7.32-10.78). Of the 93 relatives, 84 had only one first-degree relative who suffered aSAH. Siblings posed a higher risk for UIA than offspring (16% vs. 9.5%), but the difference was not statistically significant (odds ratio 1.810, 95% CI 0.50-6.50, P = 0.274). The most common aneurysm location was the anterior cerebral artery territory (50%). CON …

[The role of social integration in the consumption of fruit and vegetables among the elderly].

This study investigates the extent to which aspects of the social integration of the elderly are linked to higher levels of fruit and vegeta … gistic regression analysis was then conducted. In the adjusted model, more frequent encounters with siblings, in-laws and nephews, participation in community groups or organizations, are factors that increase the possibility of consuming two or more servings of fruit and vegetables a day, versus 1 serving or none; the opposite was observed when living alon …

Intervertebral Disc Degeneration: The Role and Evidence for Non-Stem-Cell-Based Regenerative Therapies.

INTRODUCTION: Autoimmune polyendocrinopathy- candidiasis-ectodermal-dystrophy syndrome (APECED) is a monogenic disease whose phenotype may reveal wide heterogeneity. The reasons of this variability still remain obscure. PATIENTS AND METHODS: Two APECED siblings with identical genotype and extremely different phenotype were compared with regard to exposure to infectious triggers, autoantibodies' profile, mechanisms of peripheral tolerance, and human leukocyte antigen (HLA) haplotype. The following infectious markers were evaluated: rubella, Epstein Barr virus, cytomegalovirus, toxoplasma, vari…

Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing.

Objective: Genetic factors play a critical role in pubertal progression; however, mutations associated with central precocious puberty (CPP) have been reported only in four genes: KISS1, KISS1R, DLK1, and MKRN3. This study aimed to identify novel, potentially pathogenic variants in patients with familial CPP via whole-exome sequencing (WES).Methods: WES analysis was applied in 28 patients (25 girls and three boys) belonging to 14 families, wherein all siblings were diagnosed with CPP. Data analysis aimed to select only very rare variants (minor allele frequency <1%). Nonsense, splice-site, and…

The epidemiological risk factors of hand, foot, mouth disease among children in Singapore: A retrospective case-control study.

The incidence of hand, foot, and mouth disease (HFMD) is increasing over the years despite current prevention and control policies in Singap … variate analysis were adjusted for age group, parent's education level, mother's age, HFMD-infected siblings, and preschool admission period. Child's age between 1.5 and 4.9 years, child who had been in childcare for more than 1.9years, having HFMD-infected siblings, two or more children in a family, higher educated parents, parents who had HFMD episode pr …

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

BACKGROUND: Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by … novel homozygous mutation in CREB3L1 was identified in the three affected patients. The parents and siblings who carry the mutation in heterozygous state were clinically unaffected. The three affected siblings, who were reported to have been born healthy, presented very severe progressive skeletal malformations and joint contractures but absence of common …

Статус вакцинации в педиатрических твердых организациях-реципиентах и членах их домохозяйств.

ЦЕЛИ: Болезни, предотвращаемые с помощью вакцин, по-прежнему являются одной из основных причин заболеваемости и смертности у твердоорганизованных кандидатов и получателей на трансплантацию. К числу новых рекомендаций относится вакцинация всех членов домашнего хозяйства в целях создания неприкосновенности стада вокруг получателя трансплантации. В ходе этого исследования была проведена оценка состояния вакцинации педиатрических твердоорганических трансплантаторов и членов их семей. МАТЕРИАЛЫ И МЕТОДЫ: Мы провели оценку 30 педиатрических твердоорганизованных трансплантаторов (14 почек, 13 печени,

Совпадение в аннотации оригинала
OBJECTIVES: Vaccine-preventable diseases remain a major cause of morbidity and mortality in solid-organ transplant candidates and recipients … ic solid-organ transplant recipients (14 kidney, 13 liver, 3 heart) and their household members (26 siblings, 30 parents) at time of transplant. RESULTS: Fourteen recipients (47%) received scheduled vaccinations before solid-organ transplant and were up to date for their age with their diphtheria, tetanus, pertussis; hepatitis B virus; poliomyelitis; Haem …

The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome.

Individuals with 22q11.2 Deletion Syndrome (22q11.2DS) are at substantial increased risk of psychosis spectrum outcomes including schizophrenia. We conducted a prospective, longitudinal study of the psychopathological and neurocognitive correlates of early psychotic phenomena in young people with 22q11.2DS (n = 75, mean age time 1 (T1) 9.9 years, time 2 (T2) 12.5 years). We also assessed unaffected control siblings (n = 33, mean age T1 10.6 years, T2 13.4 years). The prevalence of psychotic experiences, defined as subthreshold psychotic phenomena, substantially increased in children with 22q11…

Multiple sclerosis and fabry Disease, two sides of the coin? The case of an Italian family.

BACKGROUND: Multiple Sclerosis (MS) is considered among possible differential diagnosis of Fabry Disease (FD), especially in early stages wh … etrospectively rebuilt his family history and revised clinical and imaging examinations of his five siblings, two of which with previous diagnosis of MS. RESULTS: After genetic testing, two subjects were found positive to a new α-galactosidase A mutation, probably causative for FD classical variant. The two subjects meeting diagnostic criteria for MS were …