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Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nuclei, which is a common...
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Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
BackgroundThis study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase...
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In silico analysis of missense SNPs in GABRA1, GABRB1, and GABRB3 genes associated with some diseases in neurodevelopmental disorders
BackgroundNeurodevelopmental disorders are disorders that are generally seen in the early developmental period of an individual's life and involve...
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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes
BackgroundThe PACS gene family has been demonstrated to be related to intracellular vesicular trafficking. The phenotypic manifestations caused by...
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Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
BackgroundCardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart...
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High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of...
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A computational analysis reveals eight novel high-risk single nucleotide variants of human tumor suppressor LHPP gene
BackgroundLHPP is a tumor suppressor protein associated with various malignancies like liver, oral, pharyngeal, bladder, cervical, and gastric...
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Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly
BackgroundMicrocephaly is a prominent feature of patients with primary autosomal recessive microcephaly 2 (MCPH2) caused by mutations in the WD...
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Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
BackgroundChildhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile...
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Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series
BackgroundAutoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and...
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Exploring the association of ESR1 and ESR2 gene SNPs with polycystic ovary syndrome in human females: a comprehensive association study
BackgroundPolycystic Ovary Syndrome (PCOS) affects a significant proportion of human females worldwide and is characterized by hormonal, metabolic,...
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A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
BackgroundPrimary carnitine deficiency (PCD) denotes low carnitine levels with an autosomal recessive pattern of inheritance. Cardiomyopathy is the...
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Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis
Background and aimsCholestatic liver disease is a leading referral to pediatric liver transplant centers. Inherited disorders are the second most...
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Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits
Autism is a highly heritable, heterogeneous, neurodevelopmental condition. Large-scale genetic studies, predominantly focussing on simplex families...
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A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest
PurposeMutations in the β-tubulin isotype, TUBB8 , can cause female infertility. Although several mutations of TUBB8 have been reported, the full...
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In-silico analysis unravels the structural and functional consequences of non-synonymous SNPs in the human IL-10 gene
BackgroundInterleukin-10 (IL-10) is an anti-inflammatory cytokine that affects different immune cells. It is also associated with the stimulation of...
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Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis
SummaryNearly 10% of subjects with severe idiopathic osteoporosis present pathogenic WNT1 mutations. Clinical characteristics include a family...
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Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome
ASH1L potentially contributes to Tourette syndrome (TS) and other neuropsychiatric disorders, as our previous studies have shown. It regulates...
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Next-Generation Sequencing Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients
Dilated cardiomyopathy (DCM) is a myocardial disease characterized by bilateral or left ventricular cardiac dilation and systolic dysfunction that...
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Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
ObjectiveTo report genotype data of the patients with Wilson disease (WD) hailing from across several parts of India to add to the available spectrum...
