journal
https://read.qxmd.com/read/36974006/hereditary-cancer-predispositions-comparison-of-multigene-panel-sequencing-on-fresh-frozen-breast-ovarian-tumor-versus-blood
#1
JOURNAL ARTICLE
Mathias Schwartz, Virginie Moncoutier, Adrien Peytral, Jessica Le Gall, Voreak Suybeng, Mélanie Pagès, Julien Masliah-Planchon, Olfa Trabelsi-Grati, Samia Melaabi, Céline Callens, Ivan Bièche, Hélène Delhomelle, Antoine De Pauw, Claire Saule, Emmanuelle Mouret-Fourme, Marion Gauthier-Villars, Bruno Buecher, Chrystelle Colas, Dominique Stoppa-Lyonnet, Lisa Golmard
In breast or ovarian cancer (BC/OC) patients with evocative personal and/or family history, multigene panel sequencing is performed on blood to diagnose hereditary predispositions. Additionally, BRCA1/BRCA2 testing can be performed on tumor sample for therapeutic purpose. The accuracy of multigene panel tumor analysis on BC/OC to detect predisposing germline pathogenic variants (gPV) has not been precisely assessed. By comparing sequencing data from blood and fresh-frozen tumor we show that tumor genomic instability causes pitfalls to consider when performing tumor testing to detect gPV...
March 27, 2023: Clinical Genetics
https://read.qxmd.com/read/36973883/the-genetics-of-incontinence-a-scoping-review
#2
REVIEW
Anders Breinbjerg, Cecilie Siggaard Jørgensen, Britt Borg, Søren Rittig, Konstantinos Kamperis, Jane Hvarregaard Christensen
The genetic causes underlying incontinence in both children and adults have begun to be unravelled during the last decades. The aim of this scoping review is to synthesize current knowledge on the genetics of childhood and adult urinary and faecal incontinence, identify similarities between different incontinence subgroups, and identify knowledge gaps to aid future research. PRISMA-ScR was used, and 76 studies were included. Early epidemiological family and twin studies suggest high heritability of incontinence...
March 27, 2023: Clinical Genetics
https://read.qxmd.com/read/36960544/use-of-a-web-based-portal-to-return-normal-individual-research-results-in-early-check-exploring-user-behaviors-and-attitudes
#3
JOURNAL ARTICLE
Heidi Cope, Beth Lincoln-Boyea, Angela You Gwaltney, Barbara B Biesecker, Rebecca Moultrie, Amir A Alexander, Nancy M P King, Jennifer Check, Allyson Corbo, Janice Tzeng, Katherine Ackerman Porter, Holly L Peay
Early Check is a voluntary, large-scale expanded newborn screening study in North Carolina that uses a self-directed web-based portal for return of normal individual research results (IRR). Little is known about participant perspectives in using web-based portals to receive IRR. This study explored user attitudes and behaviors within the Early Check portal using three methods: (1) a feedback survey available to the consenting parent of participating infants (typically mothers), (2) semi-structured interviews conducted with a subset of parents, and (3) Google Analytics...
March 23, 2023: Clinical Genetics
https://read.qxmd.com/read/36951206/clinical-heterogeneity-of-nadsyn1-associated-vcrl-syndrome
#4
JOURNAL ARTICLE
Marion Aubert-Mucca, Caroline Janel, Valérie Porquet-Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valérie Cormier-Daire, Tania Attie-Bitach, Geneviève Baujat
The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association of vertebral, cardiac, renal, and limb anomalies (VCRL). This condition was initially characterized as severe with perinatal lethality or developmental delay and complex malformations in alive cases. Sixteen NADSYN1-associated patients have been published so far. This study illustrates the wide phenotypic variability in NADSYN1-associated NAD deficiency disorder...
March 23, 2023: Clinical Genetics
https://read.qxmd.com/read/36945845/clinical-characteristics-and-genotypes-of-201-patients-with-mucopolysaccharidosis-type-ii-in-china-a-retrospective-observational-study
#5
JOURNAL ARTICLE
Lin Zhong, Xiaolan Gao, Yu Wang, Wenjuan Qiu, Lianshu Han, Xuefan Gu, Huiwen Zhang
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated variant in the IDS gene, which encodes iduronate 2-sulfatase (IDS). We aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with MPS II and so gain a deeper understanding of natural disease progression. Patients with confirmed MPS II and without treatment were included. The disease was classified as severe in patients with neurological impairment, and as attenuated in patients aged >6 years without neurological impairment...
March 22, 2023: Clinical Genetics
https://read.qxmd.com/read/36932902/missense-variant-in-rbm10-associated-with-mild-and-non-lethal-form-of-tarp-syndrome
#6
LETTER
Amiee B Potter, Timothy D O'Brien, Arpita Kulkarni, Sarah McCabe, Kathryn Matthews, Karen Kovak, Caleb Rogers, C Sue Richards, Stephen Moore
No abstract text is available yet for this article.
March 18, 2023: Clinical Genetics
https://read.qxmd.com/read/36896710/hras-related-epidermal-nevus-syndromes-expansion-of-the-spectrum-with-first-branchial-arch-defects
#7
JOURNAL ARTICLE
Aude Beyens, Charlotte Lietaer, Kathleen Claes, Elfride De Baere, Marleen Goeteyn, Bob Lerut, Hannes Syryn, Olivier Vanakker, Joni Van der Meulen, Lieve Vanwalleghem, Bert Callewaert
Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were previously identified in nevus sebaceous (NS), keratinocytic epidermal nevus (KEN), and different ENS, including Schimmelpenning-Feuerstein-Mims and cutaneous-skeletal-hypophosphatasia syndrome (CSHS). Skeletal involvement in HRAS-related ENS ranges from localized bone dysplasia in association with KEN to fractures and limb deformities in CSHS...
March 10, 2023: Clinical Genetics
https://read.qxmd.com/read/36896672/the-prevalence-and-phenotypic-range-associated-with-biallelic-pkdcc-variants
#8
JOURNAL ARTICLE
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, Ingrid M Wentzensen, Maria J Guillen Sacoto, Francis Jeshira Reynoso Santos, Alesky Caffo, Matteo Ferla, Benito Banos-Pinero, Karolina Pawliczak, Mina Makvand, Hossein Najmabadi, Reza Maroofian, Tracy Lester, Ana Lucia Yanez-Felix, Camilo E Villarroel-Cortes, Fan Xia, Khowla Al Fayez, Amal Al Hashem, Deborah Shears, Melita Irving, Amaka C Offiah, Ariana Kariminejad, Jenny C Taylor
PKDCC encodes a component of Hedgehog signalling required for normal chondrogenesis and skeletal development. Although biallelic PKDCC variants have been implicated in rhizomelic shortening of limbs with variable dysmorphic features, this association was based on just two patients. In this study, data from the 100 000 Genomes Project was used in conjunction with exome sequencing and panel-testing results accessed via international collaboration to assemble a cohort of eight individuals from seven independent families with biallelic PKDCC variants...
March 10, 2023: Clinical Genetics
https://read.qxmd.com/read/36861389/an-fbn1-deep-intronic-variant-is-associated-with-pseudoexon-formation-and-a-variable-marfan-phenotype-in-a-five-generation-family
#9
JOURNAL ARTICLE
Dong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, Alana C Cecchi, Isabella C Marin, Yang Yu, Walter V Torres, Kwanghyuk Lee, Xue Zhu, David R Murdock, Suzanne M Leal, Marsha M Wheeler, Josh Smith, Michael J Bamshad, Dianna M Milewicz
Exome sequencing of genes associated with heritable thoracic aortic disease (HTAD) failed to identify a pathogenic variant in a large family with Marfan syndrome (MFS). A genome-wide linkage analysis for thoracic aortic disease identified a peak at 15q21.1, and genome sequencing identified a novel deep intronic FBN1 variant that segregated with thoracic aortic disease in the family (LOD score 2.7) and was predicted to alter splicing. RT-PCR and bulk RNA sequencing of RNA harvested from fibroblasts explanted from the affected proband revealed an insertion of a pseudoexon between exons 13 and 14 of the FBN1 transcript, predicted to lead to nonsense mediated decay (NMD)...
March 2, 2023: Clinical Genetics
https://read.qxmd.com/read/36843528/homozygous-frameshift-variant-in-desmoglein-2-causes-biventricular-arrhythmogenic-right-ventricular-cardiomyopathy
#10
LETTER
Hafiza Noor Ul Ayan, Pir Sheraz Ali, Asad Aslam Korejo, Holger Thiele, Peter Nürnberg, Muhammad Tariq, Syed Zahid Jamal, Jeanette Erdmann, Ilyas Ahmad
No abstract text is available yet for this article.
February 27, 2023: Clinical Genetics
https://read.qxmd.com/read/36843439/two-new-cases-with-novel-pathogenic-variants-reflecting-the-clinical-diversity-of-schaaf-yang-syndrome
#11
JOURNAL ARTICLE
Ceren Alavanda, Esra Arslan Ateş, Zehra Yavaş Abalı, Bilgen Bilge Geçkinli, Serap Turan, Ahmet Arman
Schaaf-Yang Syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD) and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi Syndrome (PWS), joint contractures and ASD were more commonly detected in in this syndrome. Recently, it was shown that truncating variants in the paternal allele of the MAGEL2 gene cause SHFYNG. Here, we present two patients diagnosed with SHFYNG syndrome having two different novel truncating variants in the MAGEL2 gene, one paternally inherited and one de novo...
February 27, 2023: Clinical Genetics
https://read.qxmd.com/read/36843433/origins-of-soph-syndrome-a-study-of-93-yakut-patients-with-review-of-c-terminal-phenotype
#12
REVIEW
Leonid Zhozhikov, Aytalina Sukhomyasova, Elizaveta Gurinova, Anna Nogovicina, Filipp Vasilev, Nadezhda Maksimova
since the first report of SOPH syndrome among the Yakut population in 2010, new clinical data of SOPH-like conditions continue to appear. We expand the phenotypic spectrum of SOPH syndrome and perform a comparative analysis of Yakut SOPH patients' clinical data with SOPH-like conditions reported in the world scientific literature to form a foundation for NBAS pathogenesis discussion. Clinical data from the genetic records of 93 patients with SOPH syndrome and global survey data on patients with pathogenic variants of the C-terminal in the NBAS gene were collected...
February 26, 2023: Clinical Genetics
https://read.qxmd.com/read/36843358/a-novel-de-novo-variant-in-the-phf21a-causes-craniofacial-abnormalities-intellectual-disability-and-skeletal-manifestations
#13
LETTER
Sumayya Mustafa, Safdar Abbas, Arif Mahmood, Ali Zaman Khan, Shah Zeb, Amjad Khan, Muhammad Umair
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) is a heterogenous genetic syndrome having diverse clinical variances such as enlarged parietal foramina, multiple exostoses, epilepsy, intellectual disability (ID), and craniofacial-abnormalities (CFA). Disease-causing variants in PHF21A have been associated with a broad spectrum of phenotypes.1 However, to date, only 24 patients have been described in the literature; thus, reporting additional cases with overlapping findings will significantly help in genotype-phenotype co-relations and help to explore and understand the underlying pathophysiological mechanism...
February 26, 2023: Clinical Genetics
https://read.qxmd.com/read/36843357/progress-on-the-study-of-popeye-domain-containing-3-popdc3-in-malignancies-and-striated-muscle-function-and-homeostasis
#14
REVIEW
Chen-Chen Sun, Zhe Zhao, Xi-Yang Peng, Lan Zheng, Chang-Fa Tang
The Popeye domain-containing protein 3 (POPDC3), a transmembrane protein with a unique cyclic adenosine monophosphate (cAMP) binding site, is widely expressed in mammalian tissues, with the highest levels of expression in skeletal muscle. POPDC3 plays a key role in many physiological and pathological processes and is considered a candidate biomarker and potential therapeutic target of cancer. In addition, POPDC3 gene variants have been associated with limb-girdle muscular dystrophy (LGMD) type 26. However, there are only a few studies on the biological role of POPDC3, interacting proteins, potential downstream targets, and regulated signaling pathways...
February 26, 2023: Clinical Genetics
https://read.qxmd.com/read/36840705/free-carnitine-concentrations-and-biochemical-parameters-in-medium-chain-acyl-coa-dehydrogenase-deficiency-genotype-phenotype-correlation
#15
JOURNAL ARTICLE
Katharina J Weiss, Ursula Berger, Maliha Haider, Matias Wagner, E M Charlotte Märtner, Stephanie Regenauer-Vandewiele, Amelie Lotz-Havla, Elfriede Schuhmann, Wulf Röschinger, Esther M Maier
Biallelic variants in the ACADM gene cause medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This study reports on differences in the occurrence of secondary free carnitine (C0) deficiency and different biochemical phenotypes related to genotype and age in 109 MCADD patients followed-up at a single tertiary care center during 22 years. C0 deficiency occurred earlier and more frequently in c.985A>G homozygotes (genotype A) compared to c.985A>G compound heterozygotes (genotype B) and individuals carrying variants other than c...
February 25, 2023: Clinical Genetics
https://read.qxmd.com/read/36840471/systematic-evaluation-of-narrow-sense-validity-of-polygenic-risk-score-for-prostate-cancer-in-a-chinese-prostate-biopsy-cohort
#16
JOURNAL ARTICLE
Yishuo Wu, Xiaohao Ruan, Peng Gao, Huang Da, Zujun Fang, Danfeng Xu, Haowen Jiang, Qiang Ding, Xiaoling Lin, Daru Lu, Rong Na
The aim of this study was to assess the narrow-sense validity of polygenic risk score (PRS) for prostate cancer (PCa) in a Chinese prostate biopsy cohort. We performed an observational prospective study with 2,640 men who underwent prostate biopsy. Germline DNA samples were genotyped and PRS was calculated for each subject using 17 PCa risk-associated genetic variants. Additional GWAS data of the ChinaPCa dataset was also used to compliment the evaluation process. The mean PRS was 1.02 in patients with negative biopsy results, which met the baseline benchmark...
February 25, 2023: Clinical Genetics
https://read.qxmd.com/read/36840469/constitutional-mosaicism-for-a-pathogenic-variant-in-men1-associated-with-multiple-endocrine-neoplasia-type-i-syndrome
#17
LETTER
Amanda Jacquart, Kala F Schilter, Rupa Udani, Douglas Evans, Ty B Carroll, Honey V Reddi
This article is protected by copyright. All rights reserved.
February 25, 2023: Clinical Genetics
https://read.qxmd.com/read/36808726/economic-evaluation-of-next-generation-sequencing-techniques-in-diagnosis-of-genetic-disorders-a-systematic-review
#18
REVIEW
Aziz Rezapour, Aghdas Souresrafil, Mohammad Barzegar, Mohammadreza Sheikhy-Chaman, Parvin Tatarpour
BACKGROUND: In recent years, massively parallel sequencing or next generation sequencing (NGS) has considerably changed both the research and diagnostic fields, and rapid developments have led to the combination of NGS techniques in clinical practice, ease of analysis, and detection of genetic mutations. This paper aimed at reviewing the economic evaluation studies of the NGS techniques in the diagnosis of genetic diseases. METHODS: In this systematic review, scientific databases (PubMed, EMBASE, Web of Science, Cochrane, Scopus and CEA registry) were searched from 2005 to 2022 to identify the related literature on the economic evaluation of NGS techniques in the diagnosis of genetic diseases...
February 21, 2023: Clinical Genetics
https://read.qxmd.com/read/36807241/variants-of-lrp2-encoding-a-multifunctional-cell-surface-endocytic-receptor-associated-with-hearing-loss-and-retinal-dystrophy
#19
JOURNAL ARTICLE
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura A G Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M Leal, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.3: LRP2: c.5005A>G, p.(Asn1669Asp) and c.149C>G, p.(Thr50Ser). In Family 2, two sisters were found to be compound heterozygous for LRP2 variants, p.(Tyr3933Cys) and an experimentally confirmed c.7715+3A>T consensus splice-altering variant...
February 19, 2023: Clinical Genetics
https://read.qxmd.com/read/36799557/compound-heterozygous-splicing-variants-expand-the-genotypic-spectrum-of-emc1-related-disorders
#20
JOURNAL ARTICLE
Samantha J Bryen, Katharine Zhang, Gregory Dziaduch, Shobhana Bommireddipalli, Take Naseri, Muagututi'a Sefuiva Reupena, Satupa'itea Viali, Ryan L Minster, Leigh B Waddell, Amanda Charlton, Gina L O'Grady, Frances J Evesson, Sandra T Cooper
EMC1 encodes subunit 1 of the endoplasmic reticulum (ER) membrane protein complex (EMC), a transmembrane domain insertase involved in membrane protein biosynthesis. Variants in EMC1 are described as a cause of global developmental delay, hypotonia, cortical visual impairment, and commonly, cerebral atrophy on MRI scan. We report an individual with severe global developmental delay and progressive cerebellar atrophy in whom exome sequencing identified a heterozygous essential splice-site variant in intron-3 of EMC1 (NM_015047...
February 17, 2023: Clinical Genetics
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