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Clinical Genetics

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https://www.readbyqxmd.com/read/29053178/utility-of-genetics-for-risk-stratification-in-pediatric-hypertrophic-cardiomyopathy
#1
J Mathew, L Zahavich, M Lafreniere-Roula, J Wilson, K George, L Benson, S Bowdin, S Mital
Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life-threatening events. We assessed if affected gene and variant burden predict outcomes. Patients <18 years old with primary HCM with a pathogenic variant or variant of uncertain significance in cardiomyopathy genes were included. Association of gene and variant number and type with freedom from major adverse cardiac events (MACE) i.e. ICD insertion, myectomy, aborted SCD, transplantation or death, was assessed by Cox regression...
October 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29052218/new-evidence-for-association-of-recessive-iars-gene-mutations-with-hepatopathy-hypotonia-intellectual-disability-and-growth-retardation
#2
LETTER
R Smigiel, M Biela, A Biernacka, A Stembalska, M Sasiadek, J Kosinska, M Rydzanicz, R Ploski
No abstract text is available yet for this article.
October 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29044499/identification-of-the-first-homozygous-1-bp-deletion-in-gdf9-gene-leading-to-primary-ovarian-insufficiency-by-using-targeted-massively-parallel-sequencing
#3
M M França, M F A Funari, M Y Nishi, A M Narcizo, S Domenice, E M F Costa, A M Lerario, B B Mendonca
Targeted massively parallel sequencing (TMPS) has been used in genetic diagnosis for Mendelian disorders. In the past few years, the TMPS has identified new and already described genes associated with primary ovarian insufficiency phenotype. Here, we performed a targeted gene sequencing to find a genetic diagnosis in idiopathic cases of Brazilian POI cohort. A custom SureSelect(XT) DNA target enrichment panel was designed and the sequencing was performed on Illumina NextSeq sequencer. We identified one homozygous 1-bp deletion variant (c...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29044489/molecular-analysis-and-genotype-phenotype-correlation-of-diamond-blackfan-anemia
#4
O A Arbiv, G Cuvelier, R J Klaassen, C V Fernandez, N Robitaille, M G Steele, V Breakey, S Abish, J Wu, R Sinha, M Silva, L Goodyear, L Jardine, J H Lipton, C Corriveau-Bourque, J Brossard, B Michon, I Ghemlas, N Waespe, B Zlateska, L Sung, M Cada, Y Dror
Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Nucleotide-level mutations or large deletions were identified in 10 ribosomal genes in 45 cases. The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29030960/cell-free-dna-noninvasive-prenatal-screening-for-aneuploidy-versus-conventional-screening-a-systematic-review-of-economic-evaluations
#5
REVIEW
L Nshimyumukiza, S Menon, H Hina, F Rousseau, D Reinharz
Although non-invasive prenatal testing (NIPT) for aneuploidies using cell free fetal DNA in maternal blood has been reported to have a high accuracy, only little evidence about its cost effectiveness is available. We systematically reviewed and assessed quality of economic evaluation studies published between 1st January 2009 and 1st January 2016 where NIPT was compared to the current screening practices consisting of biochemical markers with or without nuchal translucency (NT) and/or maternal age). We included 16 studies and we found that, at current level of NIPT prices, contingent NIPT provide the best value for money, especially for publicly funded screening programs...
October 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29023680/first-direct-evidence-of-involvement-of-a-homozygous-loss-of-function-variant-in-the-eps15l1-gene-underlying-split-hand-split-foot-malformation
#6
Muhammad Umair, Asmat Ullah, Safdar Abbas, Farooq Ahmad, Sulman Basit, Wasim Ahmad
Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of one or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the EPS15L1 gene located on chromosome 19p13...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29023671/genetics-in-pulmonary-arterial-hypertension-in-a-large-homogeneous-japanese-population
#7
REVIEW
Shinobu Gamou, Masaharu Kataoka, Yuki Aimi, Tomohiro Chiba, Yuichi Momose, Sarasa Isobe, Tomomi Hirayama, Hideaki Yoshino, Keiichi Fukuda, Toru Satoh
Pulmonary arterial hypertension (PAH) is a rare but serious disease with a grave prognosis. Bone morphogenetic protein type 2 receptor (BMPR2) gene is a strong pathogenic factor for PAH. As a collaborative team from Kyorin University and Keio University in Japan, we have analyzed the BMPR2 gene in 356 probands and more than 50 family members, including secondary patients. Importantly, the study population is a racially, ethnically, and socially homogeneous population. In PAH patients, there is a high incidence of unique mutations in BMPR2, and several mutations are frequently observed in the Japanese population, suggesting that these common and recurring mutations may be highly pathogenic or have high penetrance, explaining why they are found frequently throughout the world...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29023665/clinician-s-guide-to-genes-associated-with-rett-like-phenotypes-investigation-of-a-danish-cohort-and-review-of-the-literature
#8
REVIEW
Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Rikke S Møller, Morten Dunø, Karen Brøndum-Nielsen, Simran Kaur, Nicole J Van Bergen, Sebastian Lunke, Stefanie Eggers, Cathrine Jespersgaard, John Christodoulou, Zeynep Tümer
The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this paper we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies for example due to STXBP1 variants...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28984907/prader-willi-syndrome-genetic-subtypes-and-clinical-neuropsychiatric-diagnoses-in-residential-care-adults
#9
Ann M Manzardo, Nicolette Weisensel, Sheryl Ayala, Waheeda Hossain, Merlin G Butler
The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults by clinical presentation rather than genetic testing has limited genetic subtype-specific psychometric investigations and treatment. Genetic testing and clinical psychiatric evaluation using DSM-IV-TR criteria were undertaken on 72 adult residents (34M; 38F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15)...
October 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28977688/digenic-inheritance-and-genetic-modifiers
#10
REVIEW
Constantinos Deltas
Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic aetiology, implicating more than one gene (and perhaps the environment). True DI is when biallelic or even triallelic mutations in two distinct genes, in cis or in trans, are necessary and sufficient to cause pathology with a defined diagnosis. In true DI, a heterozygous mutation in each of two genes alone is not associated with a recognizable phenotype. Well-documented diseases with true DI are so far rare and follow non-Mendelian inheritance...
October 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28976000/wnt10a-gene-is-the-second-molecular-candidate-in-a-cohort-of-young-italian-subjects-with-ectodermal-derivative-impairment-edi
#11
L Guazzarotti, G Tadini, G E Mancini, I Sani, S Pisanelli, F Galderisi, E D'Auria, R Secondi, A Bottero, G V Zuccotti
Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24...
October 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28975623/a-novel-missense-mutation-affecting-the-same-amino-acid-as-the-recurrent-pacs1-mutation-in-schuurs-hoeijmakers-syndrome
#12
LETTER
N Miyake, S Ozasa, H Mabe, S Kimura, M Shiina, E Imagawa, S Miyatake, M Nakashima, T Mizuguchi, A Takata, K Ogata, N Matsumoto
A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.
October 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28972279/axenfeld-rieger-syndrome
#13
REVIEW
Morteza Seifi, Michael A Walter
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Here, an overview of the clinical spectrum of ARS is provided...
October 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28972276/mlec-gene-polymorphisms-promote-cerebral-palsy-via-m2-like-macrophage-polarization
#14
Weiwu Shi, Yiyang Zhu, Meiying Zhou, Yan Ruan, Xuejun Chen, Xuejiao Chen
The relationship between gene polymorphisms and the pathogenesis of cerebral palsy (CP) is uncovering recently. Here, we suggested that single nucleotide polymorphisms (SNPs) of MLEC gene might take part in the pathogenesis of CP. We genotyped and analyzed six SNP positions of MLEC gene in 916 CP patients and 957 healthy people, which are from the Chinese Han population. The results indicated significant associations between the risk of CP and rs10431386 (allele: p-value = 0.006, odds ratio (OR) = 1...
October 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28960266/autism-spectrum-disorder-recurrence-resulting-of-germline-mosaicism-for-a-chd2-gene-missense-variant
#15
LETTER
N Lebrun, P Parent, J Gendras, P Billuart, K Poirier, T Bienvenu
Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.
September 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28950406/genomic-disorders-20-years-on-mechanisms-for-clinical-manifestations
#16
REVIEW
T Harel, J R Lupski
Genomic disorders result from copy number variants (CNVs) or submicroscopic rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse technologies, including array comparative genomic hybridization (aCGH) and, more recently, whole genome sequencing and whole exome sequencing, have enabled robust genome-wide unbiased detection of CNVs in affected individuals and in reportedly healthy controls. Sequencing of breakpoint junctions has allowed for elucidation of upstream mechanisms leading to genomic instability and resultant structural variation, whereas studies of the association between CNVs and specific diseases or susceptibility to morbid traits have enhanced our understanding of the downstream effects...
September 26, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28941273/hypoglycaemia-represents-a-clinically-significant-manifestation-of-pik3ca-and-ccnd2-associated-segmental-overgrowth
#17
M D Jh, N Hickson, I Banerjee, P G Murray, D Ram, K Metcalfe, J Clayton-Smith, S Douzgou
The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly-capillary malformation syndrome (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus syndrome (MPPH) who developed clinically significant hypoglycaemia...
September 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28940419/detection-of-copy-number-variations-in-epilepsy-using-exome-data
#18
N Tsuchida, M Nakashima, M Kato, E Heyman, T Inui, K Haginoya, S Watanabe, T Chiyonobu, M Morimoto, M Ohta, A Kumakura, M Kubota, Y Kumagai, S-I Hamano, C M Lourenco, N A Yahaya, G-S Ch'ng, L-H Ngu, A Fattal-Valevski, M W Hubshman, N Orenstein, D Marom, L Cohen, H Goldberg-Stern, Y Uchiyama, E Imagawa, T Mizuguchi, A Takata, N Miyake, H Nakajima, H Saitsu, S Miyatake, N Matsumoto
Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Here, we analyzed 294 families with epilepsy using WES, and focused on 168 families with no causative single nucleotide variants (SNVs) in known epilepsy-associated genes to further validate CNVs using two different CNV detection tools using WES data...
September 22, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28940338/inpp5k-variant-causes-autosomal-recessive-congenital-cataract-in-a-pakistani-family
#19
S Yousaf, S A Sheikh, S Riazuddin, A M Waryah, Z M Ahmed
Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with three affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149T>C; p.(Ile50Thr)] in INPP5K. Inositol polyphosphate-5-phosphatase K, encoded by INPP5K, is involved in dephosphorylation of phosphatidylinositol (PtdIns) 4,5-bisphosphate, and PtdIns 3,4,5-trisphosphate. Recently, pathogenic variants in INPP5K have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract...
September 22, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28940199/expanding-the-phenotype-of-dnajc3-mutations-a-case-with-hypothyroidism-additionally-to-diabetes-mellitus-and-multisystemic-neurodegeneration
#20
LETTER
S K Bublitz, B Alhaddad, M Synofzik, V Kuhl, A Lindner, C Freiberg, H Schmidt, T M Strom, T B Haack, M Deschauer
Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).
September 21, 2017: Clinical Genetics
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