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https://www.readbyqxmd.com/read/28733840/identification-of-a%C3%A2-rare-coch-mutation-by-whole-exome-sequencing-implications-for-personalized-therapeutic-rehabilitation-in-an-austrian-family-with-non-syndromic-autosomal-dominant-late-onset-hearing-loss
#1
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Wolfgang Gstoettner, Klemens Frei, Trevor Lucas
BACKGROUND: Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for genetic counselling, disease prognosis and understanding of the molecular mechanisms of disease. To date, 36 causative genes have been identified, many in only individual families. Gene selection for genetic screening by traditional methods and genetic diagnosis in autosomal dominant patients has therefore been fraught with difficulty. Whole-exome sequencing provides a powerful tool to analyze all protein-coding genomic regions in parallel, thus allowing the comprehensive screening of all known genes and associated alterations...
July 21, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28733468/management-impact-effects-on-quality-of-life-and-prognosis-in-men1
#2
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. Since the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counselling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#3
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28730893/multicenter-study-of-genetic-abnormalities-associated-with-severe-oligospermia-and-non-obstructive-azoospermia
#4
Chong Xie, Xiangfeng Chen, Yulin Liu, Zhengmu Wu, Ping Ping
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28730136/early-diagnosis-of-abcb11-spectrum-liver-disorders-by-next-generation-sequencing
#5
Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#6
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#7
Katya De Groote, Ellen Vanhie, Ellen Roets, Paul Ramaekers, Hans De Wilde, Joseph Panzer, Kristof Vandekerckhove, Thierry Bove, Katrien François, Koen Van Herck, Daniël De Wolf
OBJECTIVE: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. METHOD: Single center retrospective study in patients with severe CHD diagnosed pre or postnatally (2006 to 2014). RESULTS: 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28726808/prevalence-of-germ-line-mutations-in-cancer-genes-among-pancreatic-cancer-patients-with-a-positive-family-history
#8
Kari G Chaffee, Ann L Oberg, Robert R McWilliams, Neil Majithia, Brian A Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup, Gloria M Petersen
PurposePanel-based genetic testing has identified increasing numbers of patients with pancreatic ductal adenocarcinoma (PDAC) who carry germ-line mutations. However, small sample sizes or number of genes evaluated limit prevalence estimates of these mutations. We estimated prevalence of mutations in PDAC patients with positive family history.MethodsWe sequenced 25 cancer susceptibility genes in lymphocyte DNA from 302 PDAC patients in the Mayo Clinic Biospecimen Resource for Pancreatic Research Registry. Kindreds containing at least two first-degree relatives with PDAC met criteria for familial pancreatic cancer (FPC), while the remaining were familial, but not FPC...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726807/when-genotype-is-not-predictive-of-phenotype-implications-for-genetic-counseling-based-on-21-594-chromosomal-microarray-analysis-examinations
#9
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon, Mordechai Shohat
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group III, postnatal-individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28722703/deep-intronic-hotspot-variant-unraveling-rhabdoid-tumor-predisposition-syndrome-in-two-patients-with-atypical-teratoid-and-rhabdoid-tumor
#10
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, Stéphanie Puget, Christelle Dufour, Pascale Schneider, Annie Laquerrière, Thierry Frebourg, Damien Bodet, Emmanuèle Lechapt-Zalcman, Gaëlle Pierron, Olivier Delattre, Pascale Varlet, Franck Bourdeaut
About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis therefore keeps a crucial place in the diagnosis of RT, and genetic counseling should be systematically recommended. However, immunohistochemistry has progressively replaced molecular tools to assess the status of SMARCB1 in tumors; the necessity of analyzing SMARCB1 status in the tumor may thus be less considered by neuropathologists and pediatric neuro-oncologists. In the present manuscript as aforementioned, we report on two patients with bifocal RT in the first month of life and in whom no germline variant was initially found in the SMARCB1 coding sequence...
July 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#11
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28720532/lipoid-proteinosis-a-clinical-and-molecular-study-in-egyptian-patients
#12
Hanan H Afifi, Khalda S Amr, Angie M S Tosson, Tarak A Hassan, Mennat I Mehrez, Ghada Y El-Kamah
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28717660/a-novel-molecular-diagnostics-platform-for-somatic-and-germline-precision-oncology
#13
Rubén Cabanillas, Marta Diñeiro, David Castillo, Patricia C Pruneda, Cristina Penas, Guadalupe A Cifuentes, Álvaro de Vicente, Noelia S Durán, Rebeca Álvarez, Gonzalo R Ordóñez, Juan Cadiñanos
BACKGROUND: Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have developed a novel NGS diagnostic platform aimed at detecting (1) somatic genomic alterations associated with the response to approved targeted cancer therapies and (2) germline mutations predisposing to hereditary malignancies...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#14
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28716792/influence-of-family-history-on-the-willingness-of-outpatients-to-undergo-genetic-testing-for-salt-sensitive-hypertension-a-cross-sectional-study
#15
Taro Takeshima, Masanobu Okayama, Ryusuke Ae, Masanori Harada, Eiji Kajii
OBJECTIVES: It is unclear whether family medical history influences the willingness to undergo genetic testing. This study aimed to determine how family history affected the willingness to undergo genetic testing for salt-sensitive hypertension in patients with and without hypertension. DESIGN: Cross-sectional study using a self-administered questionnaire. SETTING: Six primary care clinics and hospitals in Japan. PARTICIPANTS: Consecutive 1705 outpatients aged >20 years, 578 of whom had hypertension...
July 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28716623/a-second-truncation-in-ttn-causes-early-onset-recessive-muscular-dystrophy
#16
Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub
Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing. We undertook whole exome sequencing in four individuals with LGMD...
June 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28716533/novel-ubqln2-mutations-linked-to-amyotrophic-lateral-sclerosis-and-atypical-hereditary-spastic-paraplegia-phenotype-through-defective-hsp70-mediated-proteolysis
#17
Elisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra Da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stevanin, Stéphanie Millecamps
Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T, p.Pro494Leu, P494L; c.1498C>T, p.Pro500Ser, P500S; and c.1516C>G, p.Pro506Ala, P506A) missense mutations in the PXX domain of UBQLN2 in familial motor neuron diseases including ALS and spastic paraplegia (SP). A novel missense mutation (c...
June 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28715980/clinical-aspects-of-infertile-47-xyy-patients-a-retrospective-study
#18
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
47,XYY syndrome is a sex chromosomal anomaly in men, which may be associated with infertility and has an incidence of 0.1% of male births. The clinical and paraclinical characteristics of men suffering from this anomaly have not been fully described. In this retrospective study, we present 37 cases of 47,XYY infertile men with sperm counts varying from normal to azoospermia, referred to the Genetics Laboratory at the Royan Institute, Iran. Thirteen individuals were mosaic and 24 non-mosaics. Non-mosaic patients were classified as azoospermic (nine cases) and normospermic/oligozoospermic men (15 cases)...
July 18, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28715041/diagnostic-single-gene-analyses-beyond-sanger-economic-high-throughput-sequencing-of-small-genes-involved-in-congenital-coagulation-and-platelet-disorders
#19
Juliane Najm, Matthias Rath, Winnie Schröder, Ute Felbor
Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases, genotype-phenotype correlations are important for predicting the clinical course of the disease and adaptation of individualized therapy. Until recently, genotyping has been mainly performed by Sanger sequencing. While next generation sequencing (NGS) enables the parallel analysis of multiple genes, the cost-value ratio of custom-made panels can be unfavorable for analyses of specific small genes...
July 17, 2017: Hämostaseologie
https://www.readbyqxmd.com/read/28714147/communication-of-information-about-genetic-risks-putting-families-at-the-center
#20
Álvaro Mendes, Alison Metcalfe, Milena Paneque, Liliana Sousa, Angus J Clarke, Jorge Sequeiros
Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress...
July 16, 2017: Family Process
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