A novel PTRH2 missense mutation causing IMNEPD: a case report.

PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.

Kabuki Syndrome: Identification of Two Novel Variants in and .

Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in the gene, while the other cases show mutations in . We studied 2 patients with suspected KS in 2 unrelated families by whole-exome sequencing to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants and check the segregation in other members of the families.

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non-syndromic HL identified to date. Here, we performed exome sequencing (ES) on a cohort of Iranian families with no disease-causing variants in known deafness-associated genes after screening with a targeted gene panel.

Recalled Parental Gender Preference in Chinese Culture: A Taiwan Birth Cohort Study.

Chinese culture has long favored sons over daughters. With the development of reproductive technology, the methods can be used not only in facilitation of conception, but also in sex-selective termination of pregnancies. Therefore, this study aimed to investigate: (1) the rate of pregnant expectancy/planning of children; (2) whether the Chinese cultural influence of son preference still exists, and factors effecting sex preference; and (3) whether artificial reproductive technology plays a role in parents giving birth to a child of their preferred sex.

Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family.

Major facilitator superfamily domain-containing 2A (MFSD2A) is required for brain uptake of Docosahexaenoic acid and Lysophosphatidylcholine, both are essential for the normal neural development and function. Mutations in MFSD2A dysregulate the activity of this transporter in brain endothelial cells and can lead to microcephaly. In this study, we describe an 11-year-old male who is affected by autosomal recessive primary microcephaly 15.

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.

Mutations in adaptor protein complex-4 (AP-4) genes have first been identified in 2009, causing a phenotype termed as AP-4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype-phenotype correlation of the AP-4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease-causing variants in AP-4 complex subunits, using next-generation sequencing.

Mangiferin induces immune responses and evaluates the survival rate in WEHI-3 cell generated mouse leukemia in vivo.

Mangiferin is a naturally occurring polyphenol, widely distributed in Thymeraceae families, and presents pharmacological activity, including anti-cancer activities in many human cancer cell lines. Mangiferin has also been reported to affect immune responses; however, no available information concerning the effects of mangiferin on immune reactions in leukemia mice in vivo. In the present study, we investigated the effects of mangiferin on leukemia WEHI-3 cell generated leukemia BLAB/c mice.

Relationships between internet use, deliberate self-harm, and happiness in adolescents: A Taiwan birth cohort pilot study.

The potential risk of internet use on adolescents' self-harm is a major concern. Vulnerable adolescents who are susceptible to bullying are also susceptible to the negative influence of the internet. In this study, the pathway associations were investigated between the risk factors of deliberate self-harm, experience of being bullied, internet use, and protective factors of maternal monitoring on perceived happiness of 12- and 13-year-old adolescents in the Taiwan Birth Cohort Pilot Study dataset (n = 1,457).

Reporting one very rare pathogenic variation c.1106G>A in gene.

Dystroglycan (DG) is a major cell membrane glycoprotein, which is encoded by the gene. α-DG is one of DG subunits, belongs to O-mannosylated protein of mammals and was identified in brain, peripheral nerves and muscle. Dystroglycanopathies are a group of heterogeneous congenital muscular dystrophies, which can result from defective α-DG mannosylation.

Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.

Waardenburg syndrome (WS) is a group of genetic disorders that often determined by abnormal pigmentation and hearing impairment. Four subgroups of disease are recognized according to physical characteristics and involved genes. Mutation in the genes, MITF, SOX10, SNAI2, PAX3, KIT and KITLG are related to Waardenburg syndrome type II.

Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients.

Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis.

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.

Background: Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant MED. The current study identified a novel c.

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).

Mutations in the CDC14A (Cell Division-Cycle 14A) gene, which encodes a conserved dual-specificity protein tyrosine phosphatase, have been identified as a cause of autosomal recessive non-syndromic hearing loss (DFNB32) and hearing impairment infertility male syndrome (HIIMS). We used next-generation sequencing to screen six deaf probands from six families segregating sensorineural moderate-to-profound hearing loss. Data analysis and variant prioritization were completed using a custom bioinformatics pipeline.

Measurement of Social Communication, Emotion and Cognitive Development from 6 Months to 8 Years Old: In a Taiwan Birth Cohort Study.

This study aimed to investigate (1) the reliability and validity of the Taiwan Birth Cohort Study-Developmental Instrument (TBCS-DI) 8-year-old scale; (2) the pathway relationship among the cognitive, emotional and social-communication dimensions of the TBCS-DI 8-year-old scale; (3) the predictive validity and association of the TBCS-DI dimensions at 6, 18, 36, and 66 months, with the dimensions of the 8-year-old scale. The Taiwan Birth Cohort Study dataset of 19,516 children followed from 6 months to the age of eight was used. The TBCS-DI 8-year-old scale showed good reliability and validity.

Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing.

Background And Methods: Syndactyly is a congenital disorder caused by an irregularity in limb formation during the embryonic development. Many studies have demonstrated the critical effect of genetic factor in controlling the outcome of non-syndromic syndactyly. However the signaling pathway causing this disease has not been fully understood.

The impermanent effect of waste incineration on children's development from 6 months to 8 years: A Taiwan Birth Cohort Study.

Incineration is a solution to waste problems; however, it has adverse effects on human health. Our study aimed to investigate the direct and indirect effects of living near an incinerator and breastfeeding on children's development at 6, 18, 36 and 66 months, and 8 years of age. The Taiwan Birth Cohort Study dataset used included randomized community data on 19,519 children from 6 months to 8 years old.

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.

Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important especially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is prevalent. Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic enrichment and massively parallel sequencing (TGE + MPS), have made the diagnosis more cost-effective. The aim of this study was to determine HHL variants with comprehensive genetic testing in our country.

Percutaneous Intramyocardial Septal Radiofrequency Ablation for Interventricular Septal Reduction: An Ovine Model with 1-Year Outcomes.

Background: Percutaneous intramyocardial (PIM) septal radiofrequency ablation (SRA) is a novel treatment approach for hypertrophic obstructive cardiomyopathy patients, but there has been lack of a large animal model to study PIM-SRA. We aimed to validate the long-term safety and efficacy of PIM-SRA and to observe pathological changes of the ablated interventricular septum (IVS) in a healthy sheep model.

Methods And Results: Twelve sheep were randomized to the PIM-SRA group (n = 6) and the sham group (n = 6).

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein.

Ouabain induces apoptotic cell death in human prostate DU 145 cancer cells through DNA damage and TRAIL pathways.

Ouabain, a cardiotonic steroid and specific Na /K -ATPase inhibitor, has a potential to induce cancer cell apoptosis but the mechanisms of apoptosis induced by ouabain are not fully understand. The aim of this study was to investigate the cytotoxic effects of ouabain on human prostate cancer DU 145 cells in vitro. Cell morphological changes were examined by phase contrast microscopy.