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Journal of Human Genetics

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https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#1
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez, Celia Pérez-Cerdá
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels, intellectual quotient and correlation genotype-phenotype. IVA was detected by NBS in 8 patients (prevalence of 1/326 629)...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27904152/mitochondrial-dna-diversity-of-present-day-aboriginal-australians-and-implications-for-human-evolution-in-oceania
#2
Nano Nagle, Kaye N Ballantyne, Mannis van Oven, Chris Tyler-Smith, Yali Xue, Stephen Wilcox, Leah Wilcox, Rust Turkalov, Roland A H van Oorschot, Sheila van Holst Pellekaan, Theodore G Schurr, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell
Aboriginal Australians are one of the more poorly studied populations from the standpoint of human evolution and genetic diversity. Thus, to investigate their genetic diversity, the possible date of their ancestors' arrival and their relationships with neighboring populations, we analyzed mitochondrial DNA (mtDNA) diversity in a large sample of Aboriginal Australians. Selected mtDNA single-nucleotide polymorphisms and the hypervariable segment haplotypes were analyzed in 594 Aboriginal Australians drawn from locations across the continent, chiefly from regions not previously sampled...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27904151/phylogenetic-and-population-based-approaches-to-mitogenome-variation-do-not-support-association-with-male-infertility
#3
Alberto Gómez-Carballa, Jacobo Pardo-Seco, Federico Martinón-Torres, Antonio Salas
Infertility has a complex multifactorial etiology and a high prevalence worldwide. Several studies have pointed to variation in the mitochondrial DNA (mtDNA) molecule as a factor responsible for the different disease phenotypes related to infertility. We analyzed 53 mitogenomes of infertile males from Galicia (northwest Spain), and these haplotypes were meta-analyzed phylogenetically with 43 previously reported from Portugal. Taking advantage of the large amount of information available, we additionally carried out association tests between patient mtDNA single-nucleotide polymorphisms (mtSNPs) and haplogroups against Iberian matched controls retrieved from The 1000 Genomes Project and the literature...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27881843/comparison-of-exome-based-hla-class-i-genotyping-tools-identification-of-platform-specific-genotyping-errors
#4
Kazuma Kiyotani, Tu H Mai, Yusuke Nakamura
Accurate human leukocyte antigen (HLA) genotyping is critical in studies involving the immune system. Several algorithms to estimate HLA genotypes from whole-exome data were developed. We compared the accuracy of seven algorithms, including Optitype, Polysolver and PHLAT, as well as investigated patterns and possible causes of miscalls using 12 clinical samples and 961 individuals from the 1000 Genomes Project. Optitype showed the highest accuracy of 97.2% for HLA class I alleles at the second field resolution, followed by 94...
November 24, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27881842/the-investigation-of-the-origin-of-southern-tunisians-using-hla-genes
#5
Abdelhafidh Hajjej, Wassim Y Almawi, Lasmar Hattab, Amel El-Gaaied, Slama Hmida
The south of Tunisia is characterized by marked ethnic diversity, highlighted by the coexistence of native Berbers with Blacks, Jews and Arab-speaking populations. Despite this heterogeneity, genetic anthropology studies investigating the origin of current Southern Tunisians were rarely reported. We examined human leukocyte antigen (HLA) class I (A, B) and class II (DRB1, DQB1) gene profiles of 250 unrelated Southern Tunisians, and compared them with those of Arab-speaking communities, along with Mediterranean and sub-Sahara African populations using genetic distances, neighbor-joining dendrograms, correspondence and haplotype analysis...
November 24, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27881841/novel-and-recurrent-xylt1-mutations-in-two-turkish-families-with-desbuquois-dysplasia-type-2
#6
Long Guo, Nursel H Elcioglu, Aritoshi Iida, Yasemin K Demirkol, Seda Aras, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake, Shiro Ikegawa
Desbuquois dysplasia (DBQD) is an autosomal recessive skeletal disorder characterized by growth retardation, joint laxity, short extremities, and progressive scoliosis. DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. CANT1 mutations have been reported in both DBQD1 and DBQD2. Recently, mutations in the gene encoding xylosyltransferase 1 (XYLT1) were identified in several families with DBQD2. In this study, we performed whole-exome sequencing in two Turkish families with DBQD2...
November 24, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27881840/a-combined-linkage-and-association-strategy-identifies-a-variant-near-the-gstp1-gene-associated-with-bmi-in-the-mexican-population
#7
Hugo Villamil-Ramírez, Paola León-Mimila, Luis R Macias-Kauffer, Adrián Canizalez-Román, Marisela Villalobos-Comparán, Nidia León-Sicairos, Joel Vega-Badillo, Fausto Sánchez-Muñoz, Blanca López-Contreras, Sofía Morán-Ramos, Teresa Villarreal-Molina, Luis C Zurita, Francisco Campos-Pérez, Adriana Huertas-Vazquez, Rafael Bojalil, Sandra Romero-Hidalgo, Carlos A Aguilar-Salinas, Samuel Canizales-Quinteros
Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful approach to identify other obesity-susceptibility variants. We thus sought to identify novel genetic variants associated with obesity-related traits in the Mexican population by combining these methods...
November 24, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27853133/genetic-trail-for-the-early-migrations-of-aisin-gioro-the-imperial-house-of-the-qing-dynasty
#8
Lan-Hai Wei, Shi Yan, Ge Yu, Yun-Zhi Huang, Da-Li Yao, Shi-Lin Li, Li Jin, Hui Li
The House of Aisin Gioro, the imperial clan of Qing dynasty (1644-1911), affected the history of China and the formation of Manchu ethnicity greatly. However, owing to the lack of historical records and archeological evidences, the origin of the House of Aisin Gioro remains ambiguous. To clarify the origin of Aisin Gioro clan, we conducted whole Y-chromosome sequencing on three samples and Y-single-nucleotide polymorphism (Y-SNP) genotyping on other four samples beside those reported in previous work. We confirmed that the paternal lineage of the Aisin Gioro clan belongs to haplogroup C3b1a3a2-F8951, a brother branch of C3*-Star Cluster (currently named as C3b1a3a1-F3796, once linked to Genghis Khan), which is quite different from the predominant lineage C3c-M48 in other Tungusic-speaking populations...
November 17, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829685/late-onset-episodic-ataxia-associated-with-slc1a3-mutation
#9
Kwang-Dong Choi, Joanna C Jen, Seo Young Choi, Jin-Hong Shin, Hyang-Sook Kim, Hyo-Jung Kim, Ji-Soo Kim, Jae-Hwan Choi
Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. EAAT1 regulates the extent and durations of glutamate-mediated signal by the clearance of glutamate after synaptic release. In addition, EAAT1 also has an anion channel activity that prevents additional glutamate release. We identified a missense mutation in SLC1A3 in a family with EA. The proband exhibited typical EA2-like symptoms such as recurrent ataxia, slurred speech with a duration of several hours, interictal nystagmus and response to acetazolamide, but had late-onset age of sixth decade...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829684/comparative-study-of-idursulfase-beta-and-idursulfase-in-vitro-and-in-vivo
#10
Chihwa Kim, Jinwook Seo, Yokyung Chung, Hyi-Jeong Ji, Jaehyeon Lee, Jongmun Sohn, Byoungju Lee, Eui-Cheol Jo
Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome. These two enzymes exhibited some differences in various clinical parameters in a recent clinical trial. Regarding the similarities and differences of these enzymes, previous research has characterized their biochemical and physicochemical properties...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829683/biochemical-and-molecular-characteristics-of-citrin-deficiency-in-korean-children
#11
Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim, Han-Wook Yoo
Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). The purpose of this study was to determine the mutation spectrum and the clinical and biochemical characteristics of citrin deficiency in Korean patients. Thirty-four patients were diagnosed with citrin deficiency based on mutations in SLC25A13, as verified by direct sequencing and long PCR screening of a large transposon insertion...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829682/type-and-frequency-of-mutyh-variants-in-italian-patients-with-suspected-map-a-retrospective-multicenter-study
#12
Maria Teresa Ricci, Sara Miccoli, Daniela Turchetti, Davide Bondavalli, Alessandra Viel, Michele Quaia, Elisa Giacomini, Viviana Gismondi, Lupe Sanchez-Mete, Vittoria Stigliano, Aline Martayan, Filomena Mazzei, Margherita Bignami, Luigina Bonelli, Liliana Varesco
To determine prevalence, spectrum and genotype-phenotype correlations of MUTYH variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective analysis was conducted to identify patients who had undergone MUTYH genetic testing from September 2002 to February 2014. Results of genetic testing and patient clinical characteristics were collected (gender, number of polyps, age at polyp diagnosis, presence of colorectal cancer (CRC) and/or other cancers, family data). The presence of large rearrangements of the MUTYH gene was evaluated by Multiplex Ligation-dependent Probe Amplification analysis...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829681/gender-dependent-and-age-of-onset-specific-association-of-the-rs11675434-single-nucleotide-polymorphism-near-tpo-with-susceptibility-to-graves-ophthalmopathy
#13
Aleksander Kuś, Konrad Szymański, Beata Jurecka-Lubieniecka, Edyta Pawlak-Adamska, Dorota Kula, Piotr Miśkiewicz, Marek Bolanowski, Rafał Płoski, Artur Bossowski, Jacek Daroszewski, Barbara Jarząb, Tomasz Bednarczuk
The role of TPO gene polymorphism in the susceptibility to Graves' disease (GD) remains unclear. However, single-nucleotide polymorphisms (SNPs) near TPO have been recently associated with serum levels of thyroid peroxidase (TPO) antibody in two independent genome-wide association studies. Moreover, we have observed a strong association between the rs11675434 SNP located near TPO and the presence of clinically evident Graves' ophthalmopathy (GO). The aim of the current study was to reevaluate and dissect this association in an extended group of 1231 well-characterized patients with GD (1043 adults and 188 children) and 1130 healthy controls from the Polish Caucasian population, considering possible gender-dependent and age-of-onset-specific effects of the studied SNP...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829680/identification-of-a-novel-lrrk1-mutation-in-a-family-with-osteosclerotic-metaphyseal-dysplasia
#14
Long Guo, Katta M Girisha, Aritoshi Iida, Malavika Hebbar, Anju Shukla, Hitesh Shah, Gen Nishimura, Naomichi Matsumoto, Shifa Nismath, Noriko Miyake, Shiro Ikegawa
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrrk1 knockout mice exhibited phenotypic similarity with OSMD. Here we report a second LRRK1 mutation in Indian sibs with OSMD. They had homozygous mutation (c.5971_5972insG) that produces an elongated mutant protein (p...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829679/association-of-il12b-risk-haplotype-and-lack-of-interaction-with-hla-cw6-among-the-psoriasis-patients-in-india
#15
Aditi Chandra, Swapan Senapati, Saurabh Ghosh, Gobinda Chatterjee, Raghunath Chatterjee
Psoriasis is a complex multifactorial chronic inflammatory skin disorder involving both genetic and environmental susceptibility factors. It is strongly associated with HLA-Cw6, but several studies suggested that further genetic factors may confer additional risk. We investigated the association of two single-nucleotide polymorphisms (SNPs), rs3212227 at the 3'-untranslated region and rs7709212 located at ~6.7 kb upstream from the transcription start site of IL12B gene in a case-control study comprising 1702 individuals from India...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27829678/missing-genetic-variations-in-gne-myopathy-rearrangement-hotspots-encompassing-5-utr-and-founder-allele
#16
Wenhua Zhu, Satomi Mitsuhashi, Takahiro Yonekawa, Satoru Noguchi, Josiah Chai Yui Huei, Atchayaram Nalini, Veeramani Preethish-Kumar, Masayoshi Yamamoto, Kenji Murakata, Madoka Mori-Yoshimura, Sachiko Kamada, Hiroyuki Yahikozawa, Masato Karasawa, Seigo Kimura, Fumitada Yamashita, Ichizo Nishino
GNE myopathy is an autosomal recessive distal myopathy caused by loss-of-function mutations in the GNE gene, which encodes UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE), a key enzyme in sialic-acid biosynthesis. By comprehensive screening of manifesting patients using a fine-mapped targeted next-generation sequencing (NGS), we identified copy number variations (CNVs) in 13 patients from 11 unrelated families. The nine unique CNVs largely vary in size from 0.3 to 72 kb. Over half of the cases carry different deletions spanning merely exon 2, which contains the 5' untranslated region (5'UTR) of the muscle major transcript hGNE1...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27784896/cryptic-exon-activation-in-slc12a3-in-gitelman-syndrome
#17
Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Akemi Shono, Naoya Morisada, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Mariko Taniguchi-Ikeda, Igor Vorechovsky, Kazumoto Iijima
Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia. GS is caused by loss-of-function mutations in the solute carrier family 12 member 3 (SLC12A3) gene, but molecular mechanisms underlying such a wide range of symptoms are poorly understood. Here we report cryptic exon activation in SLC12A3 intron 12 in a clinically asymptomatic GS, resulting from an intronic mutation c...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27784895/molecular-analysis-of-23-pakistani-families-with-autosomal-recessive-primary-microcephaly-using-targeted-next-generation-sequencing
#18
Rongrong Wang, Amjad Khan, Shirui Han, Xue Zhang
Primary microcephaly is genetically heterogeneous, with most cases showing autosomal recessive inheritance. We designed a panel containing 46 primary microcephaly-causing genes and performed mutation screening in 23 Pakistani families with autosomal recessive primary microcephaly. We found mutations that were pathogenic or likely to be pathogenic in 22 families, including 18 families with known mutations in ASPM, three with novel mutations in WDR62 and one with a novel in-frame deletion mutation in CASC5. Affected individuals harbored the c...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27784894/contraction-of-fully-expanded-fmr1-alleles-to-the-normal-range-predisposing-haplotype-or-rare-events
#19
Nuno Maia, Joana R Loureiro, Bárbara Oliveira, Isabel Marques, Rosário Santos, Paula Jorge, Sandra Martins
Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). We have identified four FXS mosaic males: M1-(CGG)35/(CGG)>200; M2-(CGG)26/(CGG)>200; M3-(CGG)39/(CGG)>200; and M4-(CGG)18/(CGG)125/(CGG)>200. After genotyping their respective mothers, we suggested that normal alleles of these patients resulted from post-zygotic contractions of full expansions...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27761019/novel-mutation-of-nd4-gene-identified-by-targeted-next-generation-sequencing-in-patient-with-leigh-syndrome
#20
Bing Xu, Xiyuan Li, Miaomiao Du, Chao Zhou, Hezhi Fang, Jianxin Lyu, Yanling Yang
By using next-generation sequencing targeted to MitoExome including the entire mtDNA and exons of 1033 genes encoding the mitochondrial proteome, we described here a novel m.11240C>T mutation in the mitochondrial ND4 gene from a patient with Leigh syndrome. High mutant loads of m.11240C>T were detected in blood, urinary epithelium, oral mucosal epithelium cells, and skin fibroblasts of the patient. Decreased mitochondrial complex I activity was found in transmitochondrial cybrids containing the m.11240C>T mutation with biochemical analysis...
October 20, 2016: Journal of Human Genetics
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