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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
TLDR
It is established that CM are associated with a large range of heart conditions of which TTN mutations are a major cause, thereby expanding the TTN mutational and phenotypic spectrum and suggesting titin kinase implication in cardiac morphogenesis.
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A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features
TLDR
PAK3 mutations result in a specific form of X-linked mental retardation with fairly constant clinical features, and RT-PCR experiments using the RNA from the patient's lymphoblasts showed that PAK3 transcripts contain four additional nucleotides that lead to a disruption of reading frame with a premature stop codon at position 128.
View on Nature
The genetic epidemiology of idiopathic scoliosis
TLDR
The major difficulty in idiopathic scoliosis research is phenotypic and genetic heterogeneity, and the use of biological endophenotypes, as well as restricted clinical definitions, may help to partition variation and increase the power of studies to detect or confirm an effect.
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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal…
TLDR
A large four-generation family in which the affected males have striking clinical features of Fried syndrome were investigated for linkage to X-chromosome markers; the results showed that the gene for this condition lies within the interval DXS7109–DXS7593 in Xp22.2.
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A Replication Study for Association of 53 Single Nucleotide Polymorphisms in ScoliScore Test With Adolescent Idiopathic Scoliosis in French-Canadian Population
TLDR
Although the 52 SNPs studied here were previously associated with curve progression in an American population of European descent, this second replication cohort suggests that the lack of association of these SNPs in a Japanese cohort is not due to ethnicity.
View on Wolters Kluwer
Genetics of Idiopathic Scoliosis
TLDR
The authors discuss genetic approaches to complex diseases from the perspective of idiopathic scoliosis, a prevalent vertebral deformity syndrome that involves the integration of clinical, psychological, mechanical, and basic science disciplines, with consideration of technological innovations.
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Alterations in cholesterol metabolism–related genes in sporadic Alzheimer's disease
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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
TLDR
The importance of ASC-1 in human skeletal muscle is established, transcriptional co-regulation as novel pathophysiological pathway is identified,ASC-1 is defined as a regulator of late myogenic differentiation and defects in myotube growth as a novel myopathic mechanism are suggested.
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Genotype–phenotype correlations in recessive titinopathies
TLDR
The aim of this study was to characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and to evaluate genotype–phenotype correlations in this cohort.
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A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French–Canadian Population
TLDR
The association of the LBX1 locus with AIS in French–Canadian population, a novel European descent cohort, which is known for its unique genetic architecture is replicated, suggesting that CCGCAGGG may represent a protective haplotype.
View on Wolters Kluwer
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