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Journal of Human Genetics

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https://www.readbyqxmd.com/read/29459631/biochemical-validation-of-ehmt1-missense-mutations-in-kleefstra-syndrome
#1
Ayumi Yamada, Chikako Shimura, Yoichi Shinkai
Kleefstra syndrome (KS) (9q34 deletion syndrome) is a rare autosomal dominant disorder characterized by intellectual disability, frequently coupled with a spectrum of complex physical and clinical manifestations. As the euchromatic histone methyltransferase-1 gene (EHMT1, GLP, or KMT1D) within the 9q34 region is deleted or mutated in most of the individuals with KS, its absence or defect in one allele is speculated to cause the major symptoms of the syndrome. Most of the EHMT1 mutations are frameshift or nonsense mutations, but two individuals with KS were reported to possess EHMT1 missense mutations...
February 19, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29459630/development-of-ultra-deep-targeted-rna-sequencing-for-analyzing-x-chromosome-inactivation-in-female-dent-disease
#2
Shogo Minamikawa, Kandai Nozu, Yoshimi Nozu, Tomohiko Yamamura, Mariko Taniguchi-Ikeda, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Yuko Shima, Koichi Nakanishi, Masuji Hattori, Kyoko Kanda, Ryojiro Tanaka, Naoya Morisada, China Nagano, Nana Sakakibara, Hiroaki Nagase, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima
The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the androgen receptor gene at the genomic DNA level and does not reflect the ratio of either targeted gene directly or at the mRNA level. Here, we report four females with Dent disease, and we clarified the correlation between XCI and female cases of Dent disease using not only HUMARA assay but also a novel analytical method by RNA sequencing...
February 19, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29449634/self-perceptions-from-people-with-down-syndrome-in-japan
#3
Mio Wakai, Rina Takahashi, Satomi Higashigawa, Masami Ikeda, Junko Yotsumoto, Hironao Numabe
Self-perception of people with Down Syndrome (DS) was originally studied in the United States in 2011; this study indicated that 99% of people with DS are happy with their lives. In this study, we investigated self-perceptions of people with DS in Japan and compared the results to the previous study made in the United States. The participants (n = 300) were 12 years old or older and members of Japan Down Syndrome Society (JDS). The questionnaire was collected between 30 October 2015 and 26 November 2015. Of 96(32%) responses, 76 (97%) agreed they are happy with their lives...
February 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29440707/systematic-assessment-of-the-performance-of-whole-genome-amplification-for-snp-cnv-detection-and-%C3%AE-thalassemia-genotyping
#4
Fei He, Wanjun Zhou, Ren Cai, Tizhen Yan, Xiangmin Xu
In this study, we aimed to assess the performance of two whole-genome amplification methods, multiple displacement amplification (MDA), and multiple annealing and looping-based amplification cycle (MALBAC), for β-thalassemia genotyping and single-nucleotide polymorphism (SNP)/copy-number variant (CNV) detection using two DNA sequencing assays. We collected peripheral blood, cell lines, and discarded embryos, and carried out MALBAC and MDA on single-cell and five-cell samples. We detected and statistically analyzed differences in the amplification efficiency, positive predictive value, sensitivity, allele dropout (ADO) rate, SNPs, and CV values between the two methods...
February 13, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29440706/a-homozygous-nop14-variant-is-likely-to-cause-recurrent-pregnancy-loss
#5
Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Kazuhiro Ogata, Satoru Takeda, Naomichi Matsumoto, Noriko Miyake
Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40-60% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families...
February 13, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29410513/a-novel-homozygous-dph1-mutation-causes-intellectual-disability-and-unique-craniofacial-features
#6
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29410512/clinical-and-molecular-characteristics-of-newly-reported-mitochondrial-disease-entity-caused-by-biallelic-pars2-mutations
#7
Elżbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elżbieta Jurkiewicz, Monika Bekiesińska-Figatowska, Dorota Piekutowska-Abramczuk, Katarzyna Iwanicka-Pronicka, Edyta Szymańska, Piotr Stawiński, Joanna Kosińska, Agnieszka Pollak, Maciej Pronicki, Dariusz Plewczyński, Rafał Płoski, Ewa Pronicka
Most of the 19 mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) involved in mitochondrial protein synthesis are already linked to specific entities, one of the exceptions being PARS2 mutations for which pathogenic significance is not finally validated. The aim of the study was to characterize the PARS2- related phenotype.Three siblings with biallelic PARS2 mutations presented from birth with infantile spasms, secondary microcephaly, and similar facial dysmorphy. Mental development was deeply impaired with speech absence and no eye contact...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29410511/novel-de-novo-mutation-affecting-two-adjacent-aminoacids-in-the-eed-gene-in-a-patient-with-weaver-syndrome
#8
Robert Smigiel, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida, Piotr Gasperowicz, Joanna Kosinska, Grazyna Kostrzewa, Agnieszka Anna Koppolu, Anna Walczak, Dominik Wawrzuta, Malgorzata Rydzanicz, Malgorzata Sasiadek, Rafal Ploski
Overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features are the main symptoms of Weaver syndrome, a rare condition caused by mutations in EZH2 gene. Recently, in four patients with Weaver-like symptoms without mutations in EZH2 gene, pathogenic variants in EED were described. We present another patient clinically diagnosed with Weaver syndrome in whom WES revealed an EED de novo mutation affecting two neighboring aminoacids, NM_003797.3:c...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29410510/mitochondrial-involvement-in-a-bosch-boonstra-schaaf-optic-atrophy-syndrome-patient-with-a-novel-de-novo-nr2f1-gene-mutation
#9
Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Marcello Bellusci, Christian P Schaaf, Francisco Martínez-Azorín
We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing (WES) uncovered a novel heterozygous mutation in the NR2F1 gene (NM_005654:c.286A>G:p.Lys96Glu) that encodes for the COUP transcription factor 1 protein (COUP-TF1)...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29410509/a-1000-arab-genome-project-to-study-the-emirati-population
#10
LETTER
Mariam Al-Ali, Wael Osman, Guan K Tay, Habiba S AlSafar
Discoveries from the human genome, HapMap, and 1000 genome projects have collectively contributed toward the creation of a catalog of human genetic variations that has improved our understanding of human diversity. Despite the collegial nature of many of these genome study consortiums, which has led to the cataloging of genetic variations of different ethnic groups from around the world, genome data on the Arab population remains overwhelmingly underrepresented. The National Arab Genome project in the United Arab Emirates (UAE) aims to address this deficiency by using Next Generation Sequencing (NGS) technology to provide data to improve our understanding of the Arab genome and catalog variants that are unique to the Arab population of the UAE...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29403087/cerebellar-ataxia-dominant-phenotype-in-patients-with-ercc4-mutations
#11
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. All of the patients described here showed very slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with young adolescent or midlife onset...
February 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29403086/association-of-cdkal1-nucleotide-variants-with-the-risk-of-non-syndromic-cleft-lip-with-or-without-cleft-palate
#12
Agnieszka Gaczkowska, Kacper Żukowski, Barbara Biedziak, Kamil K Hozyasz, Piotr Wójcicki, Małgorzata Zadurska, Margareta Budner, Agnieszka Lasota, Anna Szponar-Żurowska, Paweł P Jagodziński, Adrianna Mostowska
Although the aetiology of non-syndromic cleft lip with or without cleft palate (nsCL/P) has been studied extensively, knowledge regarding the role of genetic factors in the pathogenesis of this common craniofacial anomaly is still limited. We conducted a follow-up association study to confirm that CDKAL1 nucleotide variants identified in our genome-wide association study (GWAS) for nsCL/P are associated with the risk of this anomaly. In addition, we performed a sequence analysis of the selected CDKAL1 exons...
February 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29386572/correction-genetic-and-clinical-characteristics-in-japanese-hereditary-breast-and-ovarian-cancer-first-report-after-establishment-of-hboc-registration-system-in-japan
#13
Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita, Megumi Okawa, Akihiro Sakurai, Masayuki Sekine, Junko Yotsumoto, Hiroyuki Nomura, Yoshinori Akama, Mayuko Inuzuka, Tadashi Nomizu, Takayuki Enomoto, Seigo Nakamura
Correction to: Journal of Human Genetics advance online publication, 08 November 2017; https://doi.org/10.1038/s10038-017-0355-1.
January 31, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29382920/a-systematic-analysis-highlights-multiple-long-non-coding-rnas-associated-with-cardiometabolic-disorders
#14
Mohsen Ghanbari, Marjolein J Peters, Paul S de Vries, Cindy G Boer, Jeroen G J van Rooij, Yu-Chi Lee, Vinod Kumar, André G Uitterlinden, M Arfan Ikram, Cisca Wijmenga, Jose M Ordovas, Caren E Smith, Joyce B J van Meurs, Stefan J Erkeland, Oscar H Franco, Abbas Dehghan
Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leveraged data from the available GWAS meta-analyses on lipid and obesity-related traits, blood pressure, type 2 diabetes, and coronary artery disease and identified 179 associated single-nucleotide polymorphisms (SNPs) in 102 lncRNAs (p-value < 2...
January 30, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29379193/the-inclusion-of-genomic-data-in-the-2015-revision-of-japan-s-protection-of-personal-information-act-protection-of-wider-range-of-genomic-data-as-our-next-challenge
#15
LETTER
Natsuko Yamamoto, Takanori Fujita, Minae Kawashima, Joshua Wittig, Masatomo Suzuki, Kazuto Kato
No abstract text is available yet for this article.
January 29, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29379192/genetic-variation-in-populations-from-central-argentina-based-on-mitochondrial-and-y-chromosome-dna-evidence
#16
Angelina García, Maia Pauro, Graciela Bailliet, Claudio M Bravi, Darío A Demarchi
We present new data and analysis on the genetic variation of contemporary inhabitants of central Argentina, including a total of 812 unrelated individuals from 20 populations. Our goal was to bring new elements for understanding micro-evolutionary and historical processes that generated the genetic diversity of the region, using molecular markers of uniparental inheritance (mitochondrial DNA and Y chromosome). Almost 76% of the individuals show mitochondrial lineages of American origin. The Native American haplogroups predominate in all surveyed localities, except in one...
January 29, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29379191/genetic-cluster-of-fragile-x-syndrome-in-a-colombian-district
#17
Wilmar Saldarriaga, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Fandiño-Losada, Carolina Isaza, Jose Rafael Tovar-Cuevas, Marisol Silva, Nimrah S Choudhary, Hiu-Tung Tang, Sergio Aguilar-Gaxiola, Randi J Hagerman, Flora Tassone
BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999...
January 29, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29371683/dna-methylation-of-tomm40-apoe-apoc2-in-alzheimer-s-disease
#18
Yvonne Shao, McKenzie Shaw, Kaitlin Todd, Maria Khrestian, Giana D'Aleo, P John Barnard, Jeff Zahratka, Jagan Pillai, Chang-En Yu, C Dirk Keene, James B Leverenz, Lynn M Bekris
The apolipoprotein E (APOE) ε4 allele is the major genetic risk factor for Alzheimer's disease (AD). Multiple regulatory elements, spanning the extended TOMM40-APOE-APOC2 region, regulate gene expression at this locus. Regulatory element DNA methylation changes occur under different environmental conditions, such as disease. Our group and others have described an APOE CpG island as hypomethylated in AD, compared to cognitively normal controls. However, little is known about methylation of the larger TOMM40-APOE-APOC2 region...
January 25, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29362493/identification-of-ifrd1-variant-in-a-han-chinese-family-with-autosomal-dominant-hereditary-spastic-paraplegia-associated-with-peripheral-neuropathy-and-ataxia
#19
Pengfei Lin, Dong Zhang, Guangrun Xu, Chuanzhu Yan
Spinocerebellar ataxias (SCAs) are a group of autosomal dominant, clinically heterogeneous neurodegenerative disorders. SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. However, to date, there have been no other reports of the IFRD1 mutation to confirm its role in SCA. Here, we report a Han Chinese family with SCA18; the family members presented with a slowly progressing gait ataxia, pyramidal tract signs, and peripheral neuropathy...
January 23, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29362492/novel-compound-heterozygous-dph1-mutations-in-a-patient-with-the-unique-clinical-features-of-airway-obstruction-and-external-genital-abnormalities
#20
Junya Nakajima, Shingo Oana, Tomohiro Sakaguchi, Mitsuko Nakashima, Hironao Numabe, Hisashi Kawashima, Naomichi Matsumoto, Noriko Miyake
The diphthamide biosynthesis 1 (DPH1) gene encodes one of the essential components of the enzyme catalyzing the first step of diphthamide formation on eukaryotic elongation factor 2 (EEF2). Diphthamide is the posttranslationally modified histidine residue on EEF2 that promotes protein chain elongation in the ribosome. DPH1 defects result in a failure of protein synthesis involving EEF2, leading to growth defects, embryonic lethality, and cell death. In humans, DPH1 mutations cause developmental delay with a short stature, dysmorphic features, and sparse hair, and are inherited in an autosomal recessive manner (MIM#616901)...
January 23, 2018: Journal of Human Genetics
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