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Clinical Genetics

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https://www.readbyqxmd.com/read/28195393/use-of-multigene-panel-identifies-pathogenic-variants-in-several-crc-predisposing-genes-in-patients-previously-tested-for-lynch-syndrome
#1
Maren F Hansen, Jostein Johansen, Anna E Sylvander, Inga Bjørnevoll, Bente A Talseth-Palmer, Liss Anne S Lavik, Alexandre Xavier, Lars F Engebretsen, Rodney J Scott, Finn Drabløs, Wenche Sjursen
Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be associated with this disease can be identified. The aim of this study was to find the genetic cause for the increased colorectal cancer risk in these unsolved cases. Therefore, we designed a gene panel targeting 112 previously known or candidate colorectal cancer susceptibility genes to screen 274 patient samples for mutations...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28195318/biallelic-loss-of-function-variants-in-dock3-cause-muscle-hypotonia-ataxia-and-intellectual-disability
#2
Katherine L Helbig, Cameron Mroske, Divya Moorthy, Samin A Sajan, Milen Velinov
DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization. Dock3 knockout mice exhibit motor deficiencies with abnormal ataxic gait and impaired learning. We report two siblings with biallelic loss-of-function variants in DOCK3. Diagnostic whole exome sequencing and chromosomal microarray were performed on a proband with severe intellectual disability, hypotonia, and ataxic gait...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28195315/genetic-testing-facilitates-prepubertal-diagnosis-of-congenital-hypogonadotropic-hypogonadism
#3
Cheng Xu, Mariarosaria Lang-Muritano, Franziska Phan-Hug, Andrew A Dwyer, Gerasimos P Sykiotis, Daniele Cassatella, James Acierno, Moosa Mohammadi, Nelly Pitteloud
Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by GnRH deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Hormonal testing at age 2.5 months showed low testosterone (0...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28191911/mutations-of-myh14-are-associated-to-anorectal-malformations-with-recto-perineal-fistulas-in-a-small-subset-of-chinese-population
#4
Zhongxian Zhu, Lei Peng, Guanglin Chen, Weiwei Jiang, Ziyang Shen, Chunxia Du, Rujin Zang, Yang Su, Hua Xie, Hongxing Li, Yankai Xia, Weibing Tang
Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. Here, we first performed whole-exome sequencing in a non-consanguineous Chinese family and the result revealed a homozygous mutation (GenBank: NM_001077186; c.5393C>A[p.Ala1806Asp]) in MYH14, which encodes one of the NM II heavy chain (NMHC II) proteins playing vital roles in cell adhesion and migration...
February 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28177126/identification-of-novel-snord118-mutations-in-seven-patients-with-leukoencephalopathy-with-brain-calcifications-and-cysts
#5
Kazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-Ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto
Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered the same clinical entity that was termed cerebroretinal microangiopathy with calcifications and cysts, but evidence now suggests that they are genetically distinct...
February 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28170090/parents-attitudes-toward-genetic-testing-of-children-for-health-conditions-a-systematic-review
#6
REVIEW
Qishan Lim, Brittany C McGill, Veronica F Quinn, Katherine M Tucker, David Mizrahi, Andrea Farkas Patenaude, Meera Warby, Richard J Cohn, Claire E Wakefield
This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28170089/depdc5-mutations-in-familial-and-sporadic-focal-epilepsy
#7
Meng-Han Tsai, Chung-Kin Chan, Ying-Chao Chang, Yu-Tzu Yu, Shu-Ting Chuang, Wen-Lang Fan, Sung-Chou Li, Ting-Ying Fu, Wen-Neng Chang, Chia-Wei Liou, Yao-Chung Chuang, Ching-Ching Ng, Daw-Yang Hwang, Kheng-Seang Lim
Mutations in the disheveled, Egl-10 and pleckstrin domain-containing protein 5 (DEPDC5) gene have emerged as an important cause of various familial focal epilepsy syndromes. However, the significance of DEPDC5 mutations in patients with sporadic focal epilepsy has yet to be characterized. We studied a kindred of familial focal epilepsy with variable foci using whole exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28170084/debunking-occam-s-razor-diagnosing-multiple-genetic-diseases-in-families-by-whole-exome-sequencing
#8
Tugce B Balci, Taila Hartley, Yanwei Xi, David A Dyment, Chandree L Beaulieu, Francois P Bernier, Lucie Dupuis, Gabriella Horvath, Roberto Mendoza-Londono, Chitra Prasad, Julie Richer, Xiao-Ru Yang, Christine M Armour, Eric Bareke, Bridget A Fernandez, Hugh J McMillan, Ryan Lamont, Jacek Majewski, Jillian Parboosingh, A Narayan Prasad, Tony Rupar, Jeremy Schwartzentruber, Amanda C Smith, Martine Tétreault, A Micheil Innes, Kym M Boycott
Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the frequency of multiple genetic diagnoses in families is largely unknown. We set out to identify the rate of multiple genetic diagnoses in probands and their families referred for analysis in two national research programs in Canada. We retrospectively analyzed WES results for 802 undiagnosed probands referred over the past five years in either the FORGE or Care4Rare Canada WES sequencing initiatives...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28170077/clinical-application-of-acmg-amp-guidelines-in-hnf1a-and-gck-variants-in-a-cohort-of-mody-families
#9
Lucas Santos de Santana, Lilian Araujo Caetano, Aline Dantas Costa-Riquetto, Elisangela Pereira de Souza Quedas, Marcia Nery, Paulo Collett-Solberg, Margaret Cristina da Silva Boguszewski, Marcio Faleiros Vendramini, Lindiane Gomes Crisostomo, Flavia Osmo Floh, Zuleica Isabel Zarabia, Suely Keiko Kohara, Leila Guastapaglia, Caroline de Gouveia Buff Passone, Leticia Esposito Sewaybricker, Alexander Augusto de Lima Jorge, Milena Gurgel Teles
Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK-MODY and HNF1A-MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY (GCK / HNF1A) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28155235/the-danish-hd-registry-dhr-a-nationwide-family-registry-of-hd-families-in-denmark
#10
Mette Gilling, Esben Budtz-Jørgensen, Susanne E Boonen, Dorte Lildballe, Anders Bojesen, Jens Michael Hertz, Sven Asger Sørensen
The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14.245 individuals from 445 HD families of which the largest family includes 845 individuals in 8 generations. 1.136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28155232/pax9-gene-mutations-and-tooth-agenesis-a-review
#11
REVIEW
Ondřej Bonczek, Vladimir J Balcar, Omar Šerý
Paired box 9 (PAX9) is one of the best known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth, CMT) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#12
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28150300/response-to-matyas-et-al
#13
LETTER
Lichun Zhang, Hong-Hui Wang
No abstract text is available yet for this article.
February 1, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28150298/twin-sisters-with-pla2g6-associated-neurodegeneration-due-to-paternal-isodisomy-of-the-chromosome-22-following-in-vitro-fertilization
#14
LETTER
C Tello, A Darling, V Lupo, C I Ortez, B Pérez-Dueñas, C Espinós
No abstract text is available yet for this article.
February 1, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139846/genotype-and-phenotype-in-12-additional-individuals-with-satb2-associated-syndrome
#15
Yuri A Zarate, Louisa Kalsner, Alice Basinger, Julie R Jones, Chumei Li, Marta Szybowska, Zhuo Luan Xu, Samantha Vergano, Aisling R Caffrey, Cruz Velasco Gonzalez, Holly Dubbs, Elaine Zackai, Francisca Millan, Aida Telegrafi, Berivan Baskin, Richard Person, Jennifer L Fish, David B Everman
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of twelve individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohort here described, developmental delay with severe speech compromise, facial dysmorphism, and dental anomalies were present in all cases...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139839/a-15-year-long-southern-blotting-analysis-of-fmr1-to-detect-female-carriers-and-for-prenatal-diagnosis-of-fragile-x-syndrome-in-taiwan
#16
Ching-Cherng Tzeng, Li-Ping Tsai, Yin-Kuang Chang, Yi-Ju Hung, Yih-Yuan Chang, Yu-Ping Su, Jeng-Jier Jiang, Hsi-Mi Liang
Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3,911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only two carriers were in the low-risk group, which indicated a prevalence of 1/1,955 women (95% confidence interval: 1/7,156-1/539)...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139835/unravelling-molecular-pathways-shared-by-kabuki-and-kabuki-like-syndromes
#17
REVIEW
Lintas Carla, Persico Antonio Maria
Kabuki Syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutations have been identified as the main cause of KS, accounting for 56-75% and 3-8% of cases, respectively. Patients without mutations in one of the two causative KS genes are often referred to as affected by Kabuki-like syndrome. Overall they represent approximately 30% of KS cases, pointing towards substantial genetic heterogeneity for this condition...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139825/attenuated-phenotype-of-costello-syndrome-and-early-death-in-a-patient-with-an-hras-mutation-c-179g-t-p-gly60val-affecting-signalling-dynamics
#18
Karen W Gripp, Verena Kolbe, Laura Isabel Brandenstein, Georg Rosenberger
Costello syndrome (CS) is caused by heterozygous germline HRAS mutations. Most patients share the HRAS mutation c.34G>A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype. Though many disease-associated HRAS alterations trigger constitutive activation of HRAS-dependent signalling pathways, additional pathological consequences exist. An infant with failure-to-thrive and hypertrophic cardiomyopathy had a novel de novo HRAS mutation (c...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139002/response-to-the-genetics-and-pathogenesis-of-thoracic-aortic-aneurysm-disorder-and-dissections
#19
LETTER
S Caspar, J Meienberg, G Matyas
No abstract text is available yet for this article.
January 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28134438/p-phe508del-p-gly542x-p-arg1162x-p-asn1303lys-and-p-lys683serfsx38-mutations-in-cf-newborn-screening-of-brazilian-children
#20
LETTER
D I R Ribas, C H Escaliante, C G Bortoli, C R F de Oliveira, L R Mikami, C A Riedi, S Raskin, N A Rosário Filho, L Pereira-Ferrari
No abstract text is available yet for this article.
January 30, 2017: Clinical Genetics
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