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Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
BackgroundUsher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this...
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Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations
PurposePrimary congenital glaucoma (PCG) (OMIM#231,300) can be caused by pathogenic sequence variations in CYP1B1 , LTBP2 , MYOC and PXDN genes. The...
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Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos
BackgroundThe genotype-phenotype relationships between TUBB8 variants and female infertility are difficult to clearly define due to the complex...
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A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family
The Dynactin 1 ( DCTN1 ) encodes the p150 subunit of dynactin, which engages retrograde axonal transport. Missense mutations in DCTN1 have been linked...
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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A
BackgroundPseudohypoparathyroidism (PHP) is caused by loss-of-function mutations at the GNAS gene (as in the PHP type 1A; PHP1A), de novo or...
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Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease
BackgroundCaspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-κβ...
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Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis
PurposeLeber congenital amaurosis (LCA) is a group of early-onset retinal degenerative disorders, resulting in blindness in children. This study...
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Clinical and genetic characteristics of ALS patients with variants in genes regulating DNA methylation
BackgroundAberrant DNA methylation alterations are implicated in amyotrophic lateral sclerosis (ALS). Nevertheless, the influence of genetic variants...
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A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death
PurposeVariants in the pannexin1 ( PANX1 ) gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In...
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A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
BackgroundRetinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually...
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Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits....
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Analysis of genetic variants in the exon 2 and 3 of autosomal DAZLA gene among infertile South Indian men
BackgroundBoule, DAZLA, and DAZ are members of the Deleted in Azoospermia family of genes, which play significant roles in gametogenesis and are...
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De novo variants in immune regulatory genes in Down syndrome regression disorder
BackgroundDown Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or...
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Development of metastatic poorly differentiated thyroid cancer from a sub-centimeter papillary thyroid carcinoma in a young patient with a germline MET mutation – association or random chance?
BackgroundThyroid cancer dedifferentiation is an unusual observation among young patients and is poorly understood, although a recent correlation to DICER1...
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Impact of Smad4 and p53 mutations on the prognosis of patients with pancreatic ductal adenocarcinoma undergoing chemotherapy
BackgroundThis prospective cohort study evaluated the feasibility of using endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) samples for...
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Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies
PurposeCongenital ectopia lentis (CEL) and heart abnormalities are common clinical symptoms in patients with Marfan syndrome (MFS) and related...
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Mutation screening of AOPEP variants in a large dystonia cohort
Study objectivesRecently, AOPEP has been identified to be a novel causative gene of autosomal-recessive dystonia. However, no large cohort study has...
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The prevalence and mechanism of fluoroquinolone resistance in Escherichia coli isolated from swine farms in China
BackgroundIt has been demonstrated that swine waste is an important reservoir for resistant genes. Moreover, the bacteria carrying resistant genes...
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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...
