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Journal of Human Genetics

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https://www.readbyqxmd.com/read/28446799/expanding-the-spectrum-of-skeletal-dysplasia-with-immunodeficiency-a-commentary-on-identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#1
https://www.readbyqxmd.com/read/28446798/novel-missense-mutation-in-dll4-in-a-japanese-sporadic-case-of-adams-oliver-syndrome
#2
Miwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, Yuya Ouchi, Daisuke Kurokawa, Keiji Yamana, Risa Harada, Kandai Nozu, Yoshitada Sakai, Sushil K Mishra, Yoshiki Yamaguchi, Ichiro Morikoka, Tatsushi Toda, Hiroki Kurahashi, Kazumoto Iijima
Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with clinically diagnosed AOS. Trio whole-exome sequencing identified a de novo, novel, heterozygous missense mutation in the Delta-like 4 ligand gene (DLL4 c...
April 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28446797/fetiform-teratoma-was-a-parthenogenetic-tumor-arising-from-a-mature-ovum
#3
Kiyonori Miura, Takumi Kurabayashi, Chisei Satoh, Kensaku Sasaki, Tatsuya Ishiguro, Koh-Ichiro Yoshiura, Hideaki Masuzaki
The aim of this study was to investigate the parthenogenetic origin of fetiform teratoma by using molecular genetic studies and methylation status analyses. A fetiform teratoma was removed from a 35-year-old nulligravida woman. Genotyping of microsatellite marker loci, microarray analysis of single-nucleotide polymorphism (SNP) loci and methylation status analysis of the differentially methylated region (DMR) within the human IGF2-H19 locus were performed. Karyotypes of the host and the fetiform teratoma were 46, XX...
April 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28424482/logistic-bayesian-lasso-for-genetic-association-analysis-of-data-from-complex-sampling-designs
#4
Yuan Zhang, Jonathan N Hofmann, Mark P Purdue, Shili Lin, Swati Biswas
Detecting gene-environment interactions with rare variants is critical in dissecting the etiology of common diseases. Interactions with rare haplotype variants (rHTVs) are of particular interest. At the same time, complex sampling designs, such as stratified random sampling, are becoming increasingly popular for designing case-control studies, especially for recruiting controls. The US Kidney Cancer Study (KCS) is an example, wherein all available cases were included while the controls at each site were randomly selected from the population by frequency matching with cases based on age, sex and race...
April 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28424481/the-first-genome-wide-association-study-identifying-new-susceptibility-loci-for-obstetric-antiphospholipid-syndrome
#5
Mayumi Sugiura-Ogasawara, Yosuke Omae, Minae Kawashima, Licht Toyo-Oka, Seik-Soon Khor, Hiromi Sawai, Tetsuya Horita, Tatsuya Atsumi, Atsuko Murashima, Daisuke Fujita, Tomio Fujita, Shinji Morimoto, Eriko Morishita, Shinji Katsuragi, Tamao Kitaori, Kinue Katano, Yasuhiko Ozaki, Katsushi Tokunaga
Antiphospholipid syndrome (APS) is the most important treatable cause of recurrent pregnancy loss. The live birth rate is limited to only 70-80% in patients with APS undergoing established anticoagulant therapy. Lupus anticoagulant (LA), but not anticardiolipin antibody (aCL), was found to predict adverse pregnancy outcome. Recent genome-wide association studies (GWAS) of APS focusing on aCL have shown that several molecules may be involved. This is the first GWAS for obstetric APS focusing on LA. A GWAS was performed to compare 115 Japanese patients with obstetric APS, diagnosed according to criteria of the International Congress on APS, and 419 healthy individuals...
April 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28405014/update-of-the-gjb2-dfnb1-mutation-spectrum-in-russia-a-founder-ingush-mutation-del-gjb2-d13s175-is-the-most-frequent-among-other-large-deletions
#6
Elena A Bliznetz, Maria R Lalayants, Tatiana G Markova, Oleg P Balanovsky, Elena V Balanovska, Roza A Skhalyakho, Elvira A Pocheshkhova, Natalya V Nikitina, Sergey V Voronin, Elena K Kudryashova, Oleg S Glotov, Alexander V Polyakov
Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us...
April 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28405013/a-missense-variant-rs373863828-a-p-arg457gln-of-crebrf-and-body-mass-index-in-oceanic-populations
#7
Izumi Naka, Takuro Furusawa, Ryosuke Kimura, Kazumi Natsuhara, Taro Yamauchi, Minato Nakazawa, Yuji Ataka, Takafumi Ishida, Tsukasa Inaoka, Yasuhiro Matsumura, Ryutaro Ohtsuka, Jun Ohashi
It has been suggested that a 'thrifty' genotype hypothesis can account for high prevalence of obesity in the island populations of Oceania. A recent genome-wide association study revealed that a missense variant, rs373863828-A (p.Arg457Gln), of the CREBRF gene (encoding CREB3 regulatory factor) was associated with an excessive increase in body mass index (BMI) in Samoans. In the present study, the association of rs373863828-A with an increase in BMI was examined in four Austronesian (AN)-speaking populations in Oceania...
April 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28381879/tfap2b-mutation-and-dental-anomalies
#8
Natchaya Tanasubsinn, Rekwan Sittiwangkul, Yupada Pongprot, Katsushige Kawasaki, Atsushi Ohazama, Thanapat Sastraruji, Massupa Kaewgahya, Piranit Nik Kantaputra
Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation carriers consisted of 1 patient with term PDA (1/43), 16 patients with isolated tooth agenesis with or without other dental anomalies (16/286; 5...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28381878/an-adaptive-strategy-for-association-analysis-of-common-or-rare-variants-using-entropy-theory
#9
Yu-Mei Li, Chao Xu, Yang Xiang, Cheng Peng, Hong-Wen Deng
Advances in DNA sequencing technology have been promoting the development of sequencing studies to identify rare variants associated with complex traits. Adaptive strategy can be effective to reduce the noise provided by non-causal variants. However, the existing adaptive strategies depend on many assumptions. In this paper, we proposed a new adaptive strategy using entropy theory for association analysis. This entropy-based strategy is based on the magnitude of association between variants and disease and does not depend on the detailed association pattern with causal variants...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28381877/the-genomic-dynamics-during-progression-of-lung-adenocarcinomas
#10
Bin Yang, Longhai Luo, Wen Luo, Yong Zhou, Chao Yang, Teng Xiong, Xiangchun Li, Xuan Meng, Lin Li, Xiaopin Zhang, Zhe Wang, Zhixin Wang
Intra-tumor heterogeneity is a big barrier to precision medicine. To explore the underlying clonal diversity in lung adenocarcinomas, we selected nine individuals with whole-genome sequencing data from primary and matched metastatic tumors as a cohort for study. Similar global pattern of arm-level copy number changes and large variations of somatic single-nucleotide variant between the primary and metastasis are observed in the majority of cases. Importantly, we found breakage-fusion-bridge (BFB) cycles acting as an important mechanism for underlying cancer gene amplification, such as amplification of CDK4, CDKN3 and FGFR1 in early stage...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28381876/genetic-origin-of-%C3%AE-0-thalassemia-sea-deletion-in-southeast-asian-populations-and-application-to-accurate-prenatal-diagnosis-of-hb-bart-s-hydrops-fetalis-syndrome
#11
Wittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Patnaree Charoenwijitkul, Jitpanu Maneesarn, Xiangmin Xu, Supan Fucharoen
α(0)-thalassemia of SEA deletion (-(SEA)) is common among Southeast Asian and Chinese. Using haplotype and phylogenetic analyses, we examined the origin of this defect in Southeast Asian populations. Study was done on both normal and α(0)-thalassemia alleles in 3 ethnic groups including 96 Thai, 52 Laotian and 21 Cambodian. Five SNPs encompassing the (-(SEA)) including (rs3760053 T>G), (rs1211375 A>C), (rs3918352 A>G), (rs1203974 A>G) and (rs11248914 C>T) were examined using high-resolution melting assays...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28356566/successful-newborn-screening-for-gaucher-disease-using-fluorometric-assay-in-china
#12
Lulu Kang, Xia Zhan, Xuefan Gu, Huiwen Zhang
Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. Determining the true incidence of this rare disease is critical for relevant policy establishment. Newborn screening allows for early diagnosis and an comparatively accurate incidence of GD. A fluorometric method to detect acid β-glucocerebrosidase (GBA) activity on a dried blood spot punch was developed...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28356565/functional-analysis-of-a-nonstop-mutation-in-mitf-gene-identified-in-a-patient-with-waardenburg-syndrome-type-2
#13
Jie Sun, Ziqi Hao, Hunjin Luo, Chufeng He, Lingyun Mei, Yalan Liu, Xueping Wang, Zhijie Niu, Hongsheng Chen, Jia-Da Li, Yong Feng
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a Chinese WS2 patient...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28356564/combined-pituitary-hormone-deficiency-due-to-gross-deletions-in-the-pou1f1-pit-1-and-prop1-genes
#14
Eleonore Bertko, Jürgen Klammt, Petra Dusatkova, Mithat Bahceci, Nazli Gonc, Louise Ten Have, Nurgun Kandemir, Georg Mansmann, Barbora Obermannova, Wilma Oostdijk, Heike Pfäffle, Denise Rockstroh-Lippold, Marina Schlicke, Alpaslan Kemal Tuzcu, Roland Pfäffle
Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy number variants (CNVs) in genes known to cause CPHD and to determine their structure. We analyzed 70 CPHD patients from 64 families. Deletions were found in three Turkish families and one family from northern Iraq. In one family we identified a 4.96 kb deletion that comprises the first two exons of POU1F1...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28356563/homozygous-p-glu87lys-variant-in-isca1-is-associated-with-a-multiple-mitochondrial-dysfunctions-syndrome
#15
Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie Bielas, Katta M Girisha
The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS). We report on two unrelated families, with two affected children each with early onset neurological deterioration, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis and early demise...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28331220/identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#16
Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#17
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28331218/identification-of-a-novel-heterozygous-mutation-of-the-aggrecan-gene-in-a-family-with-idiopathic-short-stature-and-multiple-intervertebral-disc-herniation
#18
Sumito Dateki, Akiko Nakatomi, Satoshi Watanabe, Hitomi Shimizu, Yukiko Inoue, Hideo Baba, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage. Recently, heterozygous mutations in the ACAN gene, which encodes aggrecan, have been identified in patients with short stature and accelerated bone age. We herein report another family with a heterozygous ACAN mutation associated with idiopathic short stature along with accelerated bone age and early-onset herniation of the lumbar discs at the levels of L1/2 through L5/S1...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28298627/novel-mutations-of-pdgfrb-cause-primary-familial-brain-calcification-in-chinese-families
#19
Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Qi-Jie Zhang, Ning Wang, Wan-Jin Chen
Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). However, PDGFRB mutations seem to be quite rare and no PDGFRB mutations have been reported in Chinese PFBC patients. A total of 146 PFBC patients including 12 families and 134 sporadic patients were recruited in this study...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28298626/gain-of-function-mutation-p-arg225cys-in-scn11a-causes-familial-episodic-pain-and-contributes-to-essential-tremor
#20
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria...
March 16, 2017: Journal of Human Genetics
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