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Journal of Human Genetics

Hou-Sung Jung, Stephanie E Vallee, Mary Beth Dinulos, Gregory J Tsongalis, Joel A Lefferts
We present a case of a newborn female with multiple anomalies demonstrating that the causes of imprinting disorders rely not only on the parent-of-origin of the chromosomal aberrations, but also the scope of genes contained in the imprinted region. The newborn female presented with prenatal polyhydramnios, neonatal respiratory distress, distal contractures, abdominal hernia, bell-shaped thorax, and abnormal ribs. The neonate required mechanical ventilation due to apnea, underwent surgery for laryngomalacia, and showed development delay by age 11 months...
September 19, 2018: Journal of Human Genetics
Masaki Takagi, Satoshi Shimomura, Ryuji Fukuzawa, Satoshi Narumi, Gen Nishimura, Tomonobu Hasegawa
Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild facial dysmorphisms. While the majority of the cases show autosomal recessive inheritance, only a few cases of vertical transmissions, with MYH3 mutations, have been reported. Here we report a case with typical SCT, carrying a novel heterozygous mutation in MYH3...
September 18, 2018: Journal of Human Genetics
Hiroko Toda, Sasagu Kurozumi, Yuko Kijima, Tetsuya Idichi, Yoshiaki Shinden, Yasutaka Yamada, Takayuki Arai, Kosei Maemura, Takaaki Fujii, Jun Horiguchi, Shoji Natsugoe, Naohiko Seki
Triple-negative breast cancer (TNBC) is an aggressive type of cancer associated with a poor prognosis. Identification of novel therapeutic targets in TNBC is urgently needed. Here, we investigated the microRNA (miRNA) expression signature of TNBC using clinical specimens. In total, 104 miRNAs (56 upregulated and 48 downregulated) were significantly dysregulated in TNBC tissues; miR-204-5p showed the most dramatic downregulation. We then examined the antitumor roles of miR-204-5p in breast cancer (BC) cells...
September 18, 2018: Journal of Human Genetics
Georgia M Parkin, Madhara Udawela, Andrew Gibbons, Elizabeth Scarr, Brian Dean
Catechol-O-methyltransferase (COMT) is an enzyme that catalyses the O-methylation, and thereby the inactivation, of catechol-containing molecules. In humans, it has been suggested that COMT modulates cognitive ability, possibly by regulating degradation of dopamine in the prefrontal cortex. Hence, it is significant that two COMT SNPs, rs4680 (c.472 G > A, p.Val158Met) and rs4818 (c.408 C > G), have been associated with cognitive ability in humans. We have shown these SNPs to be associated with levels of muscarinic M1 receptor mRNA in human cortex, which is significant as that receptor also regulates cognitive ability...
September 14, 2018: Journal of Human Genetics
Jin Hao, Lin Hua, Xinxing Fu, Xuelian Zhang, Qijuan Zou, Yongxin Li
Diabetes-related hearing loss (DRHL) is a complication of diabetes mellitus that is drawing more attention currently. DNA methylation has a critical role in the pathogenesis of type 2 diabetes mellitus (T2DM) and its complications. Therefore, we investigated the genome-wide DNA methylation of peripheral blood of T2DM patients with/without hearing loss in order to explore the susceptibility loci of DRHL. Between DRHL group and control group, 113 gene sites were identified to be differentially methylated regions (DMRs)...
September 12, 2018: Journal of Human Genetics
Natsuko Inagaki, Takeharu Hayashi, Yasuyoshi Takei, Kousuke Tanimoto, Taishiro Chikamori, Akinori Kimura
Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. This study aimed to reveal the clinical and genetic backgrounds of the unique HCM with mid-ventricular obstruction (HCM-MVO) subtype. We identified 34 patients with HCM-MVO in our cohort, and about half (47%) of these patients experienced adverse events. We analyzed 67 cardiomyopathy-associated genes in the patients. In total, 44% of patients with HCM-MVO carried the cardiomyopathy-associated genetic variant (CAGV) in 14 genes...
September 11, 2018: Journal of Human Genetics
Linhua Yao, Fei Yu, Yingying Mao, Tianpei Wang, Qi Qi, Hui Ding, Jinchen Wang, Hongxia Ma, Juncheng Dai, Guoxin Zhang, Guangfu Jin
Many features are shared between esophageal cancer (EC) and gastric cancer (GC). This study aimed to explore whether known EC susceptibility loci are also important in the development of GC. A total of 21 genetic variants associated with EC in genome-wide association studies were evaluated with association of GC risk in 2631 cases and 4373 controls of Chinese ancestry. Single variant and weighted genetic scores (WGS) for esophageal squamous cell carcinoma (ESCC), esophageal adenocarcinoma (EAC), and overall EC were analyzed with GC risk, respectively...
September 10, 2018: Journal of Human Genetics
Kayono Yamamoto, Atsushi Shimizu, Fumie Aizawa, Hiroshi Kawame, Tomoharu Tokutomi, Akimune Fukushima
Several biobanks have begun returning genetic results to individuals, making the development of public genetic literacy an urgent task for their effective use. No research exists regarding the effects of genetic education on biobank participants, so we conducted genetics workshops with specialists, and surveyed differences in the participants' (n = 112) preferences to receive their own genetic information by disease categories and their genetic knowledge using questionnaires before and after the workshops...
September 5, 2018: Journal of Human Genetics
Melinda Zombor, Tibor Kalmár, Zoltán Maróti, Alíz Zimmermann, Adrienn Máté, Csaba Bereczki, László Sztriha
Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1 disease-causing variants cause Gorlin syndrome. We describe a girl with extreme megalencephaly, developmental delay and severe intellectual disability. Dysmorphic features included prominent forehead, frontal hair upsweep, flat, wide nasal bridge, low-set, abnormally modelled ears and post-axial cutaneous appendages on the hands. Brain MRI showed partial agenesis of the corpus callosum and widely separated leaves of the septum pellucidum...
September 4, 2018: Journal of Human Genetics
Diana Matías-Pérez, Leopoldo A García-Montaño, Marisa Cruz-Aguilar, Iván A García-Montalvo, Jessica Nava-Valdéz, Tania Barragán-Arevalo, Cristina Villanueva-Mendoza, Camilo E Villarroel, Clavel Guadarrama-Vallejo, Rocío Villafuerte-de la Cruz, Oscar Chacón-Camacho, Juan C Zenteno
Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are one of the main causes of visual handicap worldwide. They can arise from multifactorial, chromosomal, or monogenic factors and can be associated with extensive clinical variability. Genetic analysis of individuals with these defects has allowed the recognition of dozens of genes whose mutations lead to disruption of normal ocular embryonic development. Recent application of next generation sequencing (NGS) techniques for genetic screening of patients with congenital eye defects has greatly improved the recognition of monogenic cases...
September 4, 2018: Journal of Human Genetics
Khurram Liaqat, Ilene Chiu, Kwanghyuk Lee, Imen Chakchouk, Paula B Andrade-Elizondo, Regie Lyn P Santos-Cortez, Shabir Hussain, Shoaib Nawaz, Muhammad Ansar, Muhammad Nasim Khan, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
LHFPL5, the gene for DFNB67, underlies autosomal recessive nonsyndromic hearing impairment. We identified seven Pakistani families that mapped to 6p21.31, which includes the LHFPL5 gene. Sanger sequencing of LHFPL5 using DNA samples from hearing impaired and unaffected members of these seven families identified four variants. Among the identified variants, two were novel: one missense c.452 G > T (p.Gly151Val) and one splice site variant (c.*16 + 1 G > A) were each identified in two families...
September 3, 2018: Journal of Human Genetics
Xiaoting Lou, Hao Shi, Shumeng Wen, Yuanyuan Li, Xiujuan Wei, Jie Xie, Lin Ma, Yanling Yang, Hezhi Fang, Jianxin Lyu
Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to MitoExome in a patient with clinical manifestations of Leigh syndrome, two missense mutations of NDUFS3 (c.418 C > T/p.R140W and c.595 C > T/p.R199W) were identified, of which c...
August 23, 2018: Journal of Human Genetics
Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, Hideaki Sawai, Naoko Arimori, Yasuko Yamanouchi, Yuka Ozasa, Makoto Kanai, Haruhiko Sago, Akihiko Sekizawa, Fumio Takada, Hideaki Masuzaki, Yoichi Matsubara, Fumiki Hirahara, Koji Kugu
Since the publication of this paper, the authors noticed that Yosuke Fujii was assigned to the incorrect affiliation. The affiliation information is provided correctly, above.
August 23, 2018: Journal of Human Genetics
José M Uribe-Salazar, Julie R Palmer, Stephen A Haddad, Lynn Rosenberg, Edward A Ruiz-Narváez
African American women are disproportionately affected by type 2 diabetes. Genetic factors may explain part of the excess risk. More than 100 genetic variants have been associated with risk of type 2 diabetes, but most studies have been conducted in white populations. Two genome-wide association studies (GWAS) in African Americans have identified three novel genetic variants only. We conducted admixture mapping using 2918 ancestral informative markers in 2632 cases of type 2 diabetes, and 2596 controls nested in the ongoing Black Women's Health Study cohort, with the goal of identifying genomic loci with local African ancestry associated with type 2 diabetes...
August 22, 2018: Journal of Human Genetics
Xiuju Yin, Yang Du, Han Zhang, Zhandong Wang, Juan Wang, Xinxin Fu, Yaoyao Cui, Chongjian Chen, Junbin Liang, Zhaoling Xuan, Xiaohong Zhang
Noninvasive prenatal testing (NIPT), which involves analysis of circulating cell-free fetal DNA (cffDNA) from maternal plasma, is highly effective for detecting feto-placental chromosome aneuploidy. However, recent studies suggested that coverage-based shallow-depth NIPT cannot accurately detect smaller single or multi-loci genetic variants. To assess the fetal genotype of any locus using maternal plasma, we developed a novel genotyping algorithm named pseudo tetraploid genotyping (PTG). We performed paired-end captured sequencing of the plasma cell-free DNA (cfDNA), in which case a phenotypically healthy woman is suspected to be carrying a fetus with genetic defect...
August 21, 2018: Journal of Human Genetics
Kun Wang, Sen Zhao, Qianqian Zhang, Jian Yuan, Jiaqi Liu, Xinghuan Ding, Xiaofei Song, Jiachen Lin, Renqian Du, Yangzhong Zhou, Michihiko Sugimoto, Weisheng Chen, Bo Yuan, Jian Liu, Zihui Yan, Bowen Liu, Yisen Zhang, Xiaoxin Li, Yuchen Niu, Bo Long, Yiping Shen, Shuyang Zhang, Kuniya Abe, Jianzhong Su, Zhihong Wu, Nan Wu, Pengfei Liu, Xinjian Yang
Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking. To identify genetic variants contributing to the etiology of IVAD, we enrolled a cohort of 44 unrelated cases with a clinical diagnosis of isolated IVAD and performed whole-exome sequencing (WES) for all the participants; a trio exome sequencing approach was used when samples from both parents were available...
August 16, 2018: Journal of Human Genetics
Irene Konstanta, Florentia Fostira, Paraskevi Apostolou, Efstratios Stratikos, Despoina Kalfakakou, Andreas Pampanos, Panagoula Kollia, Christos Papadimitriou, Irene Konstantopoulou, Drakoulis Yannoukakos
RAD51D gene's protein product is known to be involved in the DNA repair mechanism by homologous recombination. RAD51D germline mutations have been recently associated with ovarian and breast cancer (OC and BC, respectively) predisposition. Our aim was to evaluate the frequency of hereditary RAD51D mutations in Greek patients. To address this, we have screened for RAD51D germline mutations 609 BRCA1- and BRCA2-negative patients diagnosed with OC, unselected for age or family history, and 569 BC patients diagnosed under 55 years and with an additional relative with BC or OC...
August 15, 2018: Journal of Human Genetics
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Sadamitsu Yanagi, Hideaki Ueda, Kenji Kurosawa
A 15q11.2 microdeletion (BP1-BP2) is associated with congenital heart diseases (CHDs), developmental delay, and epilepsy. This deletion co-occurs with CHD in 20-30% patients, but a familial case of CHD and a 15q11.2 deletion has not been identified. Here we report the first familial (three siblings) case of total anomalous pulmonary venous return associated with 15q11.2 deletion. Array comparative genomic hybridization identified a ~395 kb deletion at 15q11.2 in patient 1. This deletion was confirmed by fluorescence in situ hybridization in patients 1 and 3 and their asymptomatic father...
August 14, 2018: Journal of Human Genetics
Yuko Hirai, Asao Noda, Yoshiaki Kodama, Kismet A Cordova, Harry M Cullings, Shuji Yonehara, Megumu Fujihara, Shin-Ichi Moriwaki, Chikako Nishigori, Kiyohiko Mabuchi, Kenneth H Kraemer, Nori Nakamura
This study was designed to learn if asymptomatic heterozygotes with mutations in a DNA repair gene are at an increased risk for cancer. To examine this, we focused on carriers of an XPA founder mutation because the frequency of xeroderma pigmentosum (XP) patients is much greater among Japanese than Caucasians, more than half of Japanese XP patients are affected at the XPA gene, and the majority of XP-A patients carry the same founder mutation in the XPA gene. Here we show that the frequency of XPA heterozygote was 14/1698 (0...
August 8, 2018: Journal of Human Genetics
Shunsuke Misono, Naohiko Seki, Keiko Mizuno, Yasutaka Yamada, Akifumi Uchida, Takayuki Arai, Tomohiro Kumamoto, Hiroki Sanada, Takayuki Suetsugu, Hiromasa Inoue
Our original microRNA (miRNA) expression signatures (based on RNA sequencing) revealed that both strands of the miR-145 duplex (miR-145-5p, the guide strand, and miR-145-3p, the passenger strand) were downregulated in several types of cancer tissues. Involvement of passenger strands of miRNAs in cancer pathogenesis is a new concept in miRNA biogenesis. In our continuing analysis of lung adenocarcinoma (LUAD) pathogenesis, we aimed here to identify important oncogenes that were controlled by miR-145-5p and miR-145-3p...
August 6, 2018: Journal of Human Genetics
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