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https://www.readbyqxmd.com/read/28545070/pou4f3-mutation-screening-in-japanese-hearing-loss-patients-massively-parallel-dna-sequencing-based-analysis-identified-novel-variants-associated-with-autosomal-dominant-hearing-loss
#1
Tomohiro Kitano, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-Ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-Ichi Usami
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL...
2017: PloS One
https://www.readbyqxmd.com/read/28544956/dna-commission-of-the-international-society-for-forensic-genetics-isfg-guidelines-on-the-use-of-x-strs-in-kinship-analysis
#2
Andreas O Tillmar, Daniel Kling, John M Butler, Walther Parson, Mechthild Prinz, Peter M Schneider, Thore Egeland, Leonor Gusmão
Forensic genetic laboratories perform an increasing amount of genetic analyses of the X chromosome, in particular to solve complex cases of kinship analysis. For some biological relationships X-chromosomal markers can be more informative than autosomal markers, and there are a large number of markers, methods and databases that have been described for forensic use. Due to their particular mode of inheritance, and their physical location on a single chromosome, some specific considerations are required when estimating the weight of evidence for X-chromosomal marker DNA data...
May 13, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28544770/review-article-screening-genetics-risk-factors-and-treatment-of-neonatal-cataracts
#3
REVIEW
Jinyu Li, Chun-Hong Xia, Eddie Wang, Ke Yao, Xiaohua Gong
Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#4
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544373/genetic-markers-for-inherited-thrombophilia-are-associated-with-fetal-growth-retardation-in-the-population-of-central-russia
#5
Evgeny Reshetnikov, Oksana Zarudskaya, Alexey Polonikov, Olga Bushueva, Valentina Orlova, Evgeny Krikun, Volodymyr Dvornyk, Mikhail Churnosov
AIM: The aim of this study was to examine the role of hereditary thrombophilia in the development of fetal growth retardation (FGR) in the population of Central Russia. METHODS: The case-control study sample included 497 women in the third trimester of pregnancy recruited during 2009-2013. The participants were enrolled into two groups: patients with FGR (n = 250) and controls without FGR (n = 247). The participants were genotyped for four genetic markers of hereditary thrombophilia: factor V Leiden (G > A FV, rs6025), prothrombin (G > A FII, rs1799963), factor VII (G > A FVII, rs6046), and fibrinogen (G > A FI, rs1800790)...
May 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28544275/recessive-mutations-in-msto1-cause-mitochondrial-dynamics-impairment-leading-to-myopathy-and-ataxia
#6
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#7
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544109/express-with-caution-epitope-tags-and-cdna-variants-effects-on-herg-channel-trafficking-half-life-and-function
#8
Marika L Osterbur Badhey, Alexander C Bertalovitz, Thomas V McDonald
INTRODUCTION: Genetic mutations in KCNQ2 which encodes hERG, the alpha subunit of the potassium channel responsible for the IKr current, cause Long QT Syndrome, an inherited cardiac arrhythmia disorder. Electrophysiology techniques are used to correlate genotype with molecular phenotype to determine which mutations identified in patients diagnosed Long QT Syndrome are disease causing, and which are benign. These investigations are usually done using heterologous expression in cell lines, and often, epitope fusion tags are used to enable isolation and identification of the protein of interest...
May 24, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28543957/a-novel-mutation-in-the-fgd4-gene-causing-charcot-marie-tooth-disease
#9
Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28543752/mthfr-gene-c677t-and-a1298c-variants-are-associated-with-fmf-risk-in-a-turkish-cohort
#10
Ayse Feyda Nursal, Süheyla Kaya, Ozlem Sezer, Nevin Karakus, Serbulent Yigit
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. MATERIAL-METHODS: This case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods...
May 22, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28543538/clinical-and-histopathological-features-of-myofibrillar-myopathy-in-warmblood-horses
#11
S J Valberg, A M Nicholson, S S Lewis, R A Reardon, C J Finno
BACKGROUND: To report a novel exertional myopathy, myofibrillar myopathy (MFM), in Warmblood horses. OBJECTIVES: To 1) describe the distinctive clinical and myopathic features of MFM in Warmblood horses, 2) investigate the potential inheritance of MFM in a Warmblood family. STUDY DESIGN: Retrospective selection of MFM cases and prospective evaluation of a Warmblood family. METHODS: Retrospectively, muscle biopsies were selected from Warmblood horses diagnosed with MFM and clinical histories obtained (n = 10)...
May 22, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28543417/toward-public-bioethics
#12
EDITORIAL
Gregory E Kaebnick
This issue of the Hastings Center Report (May-June 2017) features a couple of interesting takes on the governance challenges of emerging technologies. In an essay on the National Academies of Science, Engineering, and Medicine report published this February on human germ-line gene editing, Eric Juengst, a philosopher at the University of North Carolina, argues that the NASEM committee did not manage to rethink the rules. Juengst reaches what he calls an "eccentric conclusion": "The committee's 2017 consensus report has been widely interpreted as 'opening the door' to inheritable human genetic modification and holding a line against enhancement interventions...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543411/crowdsourcing-the-moral-limits-of-human-gene-editing
#13
Eric T Juengst
In 2015, a flourish of "alarums and excursions" by the scientific community propelled CRISPR/Cas9 and other new gene-editing techniques into public attention. At issue were two kinds of potential gene-editing experiments in humans: those making inheritable germ-line modifications and those designed to enhance human traits beyond what is necessary for health and healing. The scientific consensus seemed to be that while research to develop safe and effective human gene editing should continue, society's moral uncertainties about these two kinds of experiments needed to be better resolved before clinical trials of either type should be attempted...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543363/histiocytic-sarcoma-in-14-miniature-schnauzers-a-new-breed-predisposition
#14
J A Lenz, E Furrow, L E Craig, C M Cannon
OBJECTIVES: To describe a series of miniature schnauzers diagnosed with histiocytic sarcoma and assess for possible breed predisposition. MATERIALS AND METHODS: Medical records of miniature schnauzers with a diagnosis of histiocytic sarcoma between January 2008 and April 2015 were reviewed. Data collected included signalment, body weight, presenting complaint, date of diagnosis, clinicopathologic and diagnostic imaging findings, treatment, therapeutic response, date of death or last follow-up and necropsy findings...
May 25, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28542983/sterilization-of-tumor-positive-lymph-nodes-of-esophageal-cancer-by-neo-adjuvant-treatment-is-associated-with-worse-survival-compared-to-tumor-negative-lymph-nodes-treated-with-surgery-first
#15
Styliani Mantziari, Pierre Allemann, Michael Winiker, Christine Sempoux, Nicolas Demartines, Markus Schäfer
BACKGROUND AND OBJECTIVES: Lymph node (LN) involvement by esophageal cancer is associated with compromised long-term prognosis. This study assessed whether LN downstaging by neoadjuvant treatment (NAT) might offer a survival benefit compared to patients with a priori negative LN. METHODS: Patients undergoing esophagectomy for cancer between 2005 and 2014 were screened for inclusion. Group 1 included cN0 patients confirmed as pN0 who were treated with surgery first, whereas group 2 included patients initially cN+ and down-staged to ypN0 after NAT...
May 25, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28542843/next-generation-sequencing-of-a-family-with-a-high-penetrance-of-monoclonal-gammopathies-for-the-identification-of-candidate-risk-alleles
#16
Niccolo Bolli, Matteo Barcella, Erika Salvi, Francesca D'Avila, Antonio Vendramin, Chiara De Philippis, Nikhil C Munshi, Herve Avet-Loiseau, Peter J Campbell, Alberto Mussetti, Cristiana Carniti, Francesco Maura, Cristina Barlassina, Paolo Corradini, Vittorio Montefusco
BACKGROUND: The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele. METHODS: The authors performed whole-exome sequencing and reported on a combined approach aimed at the identification of causative variants and risk loci, using the wealth of data provided by this approach. RESULTS: The authors identified gene mutations and single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family...
May 23, 2017: Cancer
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#17
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#18
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542515/a-novel-frameshift-mutation-of-smpx-causes-a-rare-form-of-x-linked-nonsyndromic-hearing-loss-in-a-chinese-family
#19
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls...
2017: PloS One
https://www.readbyqxmd.com/read/28542425/association-of-atg16l1-gene-haplotype-with-inflammatory-bowel-disease-in-indians
#20
Srinivasan Pugazhendhi, Kirankumar Baskaran, Srikanth Santhanam, Balakrishnan S Ramakrishna
Inflammatory bowel disease (IBD) is characterized by multigenic inheritance. Defects in autophagy related genes are considered to show genetic heterogeneity between populations. We evaluated the association of several single nucleotide polymorphisms (SNPs) in the autophagy related 16 like 1 (ATG16L1) gene with IBD in Indians. The ATG16L1 gene was genotyped for ten different SNPs using DNA extracted from peripheral blood of 234 patients with Crohn's disease (CD), 249 patients with ulcerative colitis (UC) and 393 healthy controls The SNPs rs2241880, rs4663396, rs3792106, rs10210302, rs3792109, rs2241877, rs6737398, rs11682898, rs4663402 and rs4663421 were genotyped using the Sequenom MassArray platform...
2017: PloS One
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