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CEP78 is mutated in a distinct type of Usher syndrome

21 Sep, 16 | by hqqu

Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss.  Currently, the genetic basis remains unknown in 20-30% of patients.  In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss when mutated.  Our results add additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. (By Dr. Rui Chen, http://jmg.bmj.com/content/early/2016/09/21/jmedgenet-2016-104166 )

Common cancers share familial susceptibility: Implications for cancer genetics and counseling

20 Sep, 16 | by hqqu

Cancer is a genetic disease. People are anxious to know their cancer risks, if several relatives have been diagnosed with cancer. However, due to lack population level data, their questions have no scientific answers. In our study, Swedish Family-Cancer Database was used to estimate common cancer risks for individuals with many relatives affected with cancer. We found that cancer family history, regardless of tumor type, increased individual’s cancer risk.  Our data could provide tools for cancer genetic counseling. Furthermore, the mechanism of the general susceptibility is a novel challenge to cancer research. (By Dr. Hongyao Yu, http://jmg.bmj.com/content/early/2016/09/20/jmedgenet-2016-103932 )

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Anxiety delivered Direct-to-Consumer: are we asking the right questions about the impacts of DTC genetic testing?

20 Sep, 16 | by hqqu

Contrarily to initial expectations about the psychological impact of Direct to Consumer genetic testing, people are substantially resilient to long-term consequences of results to genetic testing. Previous literature raised concerns on DTC focusing on anxiety levels it might cause. We claim that there are three substantial limits to be considered: non-clinical anxiety is not a negative outcome; anxiety is limitedly predictive of health related behaviors and decisions; a number of previous studies are affected by methodological errors. We promote the exploration of complex cognitive and emotional mechanisms to capture the subtle and multifaceted nature of a living-at-risk situation. (By Dr. Serena Oliveri, http://jmg.bmj.com/content/early/2016/09/19/jmedgenet-2016-104184 )

Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone

14 Sep, 16 | by hqqu

Genetic variants (SNPs) in the vascular endothelial growth factor A (VEGFA) gene are associated with TSH levels. To characterize this association, we searched for SNPs in more than 8000 Danes. We identified rs881858 (in regulatory enhancer region of VEGFA), highly associated with human circulating TSH, which had alleles (A/G) with differential binding to CHOP (C/EBP homology protein) and C/EBPβ (ccaat enhancer binding protein β) proteins.

VEGF is an important angiogenic signal required for tissue expansion and is highly expressed in thyroid tissue. CHOP is a protein induced by cellular stress and these findings suggest a (genetically determined) stress-dependent response in normal or pathophysiological TSH stimulation of the thyroid. (By Dr. Louise Torp Dalgaard, http://jmg.bmj.com/content/early/2016/09/14/jmedgenet-2016-104084 )

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CEP78 is mutated in a distinct type of Usher syndrome

14 Sep, 16 | by hqqu

Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss.  Currently, the genetic basis remains unknown in 20-30% of patients.  In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss when mutated.  Our results add additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. (By Dr. Rui Chen, http://jmg.bmj.com/content/early/2016/09/14/jmedgenet-2016-104166 )

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders

6 Sep, 16 | by hqqu

Establishment of a comprehensive diagnostic system for patients with inherited myopathies is challenging because of their genetic heterogeneity. In this paper, we introduced our genetic diagnostic system using four target gene panels, each covering all exonic and flanking regions of genes associated with 1) muscular dystrophy, 2) congenital myopathy/congenital myasthenic syndrome, 3) metabolic myopathy, and 4) myopathy with protein aggregations/rimmed vacuoles, combined with comprehensive muscle histological, mRNA, and protein analyses. Our study indicates that targeted gene panels are cost- and time- effective and useful for screening pathogenic variants and for giving molecular diagnosis to the patients with inherited myopathies. (By Dr. Satomi Mitsuhashi, http://jmg.bmj.com/content/early/2016/09/06/jmedgenet-2016-104073 )

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KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

31 Aug, 16 | by hqqu

The human cell functions are highly dependent on the regulated movement of ions across the cell membrane, which is carried out by proteins called ion channels. One subset of ion channels regulates the movement of potassium, especially in excitable tissues like that of the brain. In this report, we describe a genetic change in the DNA code of a potassium channel (known as KCNA4) that led to a novel disease affecting the brain and likely to involve in natural eye lens. All four affected patients had this change, which was absent in their non-affected family members as well as healthy control samples. Examination of clawed frog eggs that over-expressed the same genetic change revealed that potassium movement across the cell membrane was reduced compared to eggs with the normal genetic makeup. Such findings implicate the involvement of this genetic change in the disease process. (By Dr. Namik Kaya, http://jmg.bmj.com/content/early/2016/08/31/jmedgenet-2015-103637 )

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

23 Aug, 16 | by hqqu

Changes in an X chromosome gene called NONO have been shown to cause delayed development and intellectual disability in males.  In this article we describe three males with changes in NONO who have the delayed development and intellectual disability previously described but also have heart defects and/or abnormal heart muscles.  This suggest that changes in NONO may put males at risk for developing heart problems.   We also found that males with changes in NONO often have large heads and sometime have changes in the nerve fibers that connect the right and left sides of the brain. (By Dr. Daryl A. Scott, http://jmg.bmj.com/content/early/2016/08/22/jmedgenet-2016-104039 )

Survival and causes of death in patients with von Hippel-Lindau disease

23 Aug, 16 | by hqqu

von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition causing life-long risk of tumor development in multiple organs. In a national research project including all known vHL families in Denmark, we found that the survival of vHL patients has improved over the last 100 years, and is getting closer to that of their siblings without vHL and the general population. Survival is influenced by a patient’s birth year, sex, and type of mutation in the VHL gene. The estimated mean life expectancy of vHL patients born in 2000 was 67 years for men and 60 years for women. (By Dr. Marie Louise Binderup, http://jmg.bmj.com/content/early/2016/08/18/jmedgenet-2016-104058 )

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

16 Aug, 16 | by hqqu

Amelogenesis Imperfecta (AI) is a genetic condition characterized by tooth enamel quantitative or qualitative defects. The defects affect the enamel appearance, which can be chalky, discolored, thinner, pitted or grooved. Usually, a combination of different defects can be found within the same patient. In the last decade, studies have shown that AI may be associated with some inherited kidney diseases. In our study, we demonstrated that patients with Familial Hypomagnesemia and Hypecalciuria with Nephrocalcinosis may present AI. This study reinforces the importance of the dental exam of kidney diseases patients and the importance of nephrologic investigation of patients with AI. (By Dr. Ana Carolina Acevedo, http://jmg.bmj.com/content/early/2016/08/16/jmedgenet-2016-103956 )

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