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Journal of Human Genetics

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https://www.readbyqxmd.com/read/28638143/siblings-with-optic-neuropathy-and-rtn4ip1-mutation
#1
Nobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, Yasuhiro Suzuki, Kazumi Kawato, Yuto Yamamoto, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic neuropathy who had novel mutations in the RTN4IP1 gene. This is the first report of Japanese patients with OPA10...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28638142/inter-generational-instability-of-inserted-repeats-during-transmission-in-spinocerebellar-ataxia-type-31
#2
Kunihiro Yoshida, Akira Matsushima, Katsuya Nakamura
The causative mutation for spinocerebellar ataxia type 31 (SCA31) is an intronic insertion containing pathogenic pentanucleotide repeats, (TGGAA)n. We examined to what degree the inserted repeats were unstable during transmission. In 14 parent-child pairs, the average change of onset age was -6.4±7.3 years (mean±s.d.) in the child generation when compared with the parent generation. Of the 11 pairs analyzed, six showed expansion of inserted repeat length during transmission, and five showed contraction. On average, the inserted repeats expanded by 12...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28638141/al-mena-a-comprehensive-resource-of-human-genetic-variants-integrating-genomes-and-exomes-from-arab-middle-eastern-and-north-african-populations
#3
Remya Koshy, Anop Ranawat, Vinod Scaria
Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615676/a-reply-to-a-commentary-on-homozygous-p-glu87lys-variant-in-isca1-is-associated-with-a-multiple-mitochondrial-dysfunctions-syndrome
#4
Anju Shukla, Malavika Hebbar, Katta M Girisha
No abstract text is available yet for this article.
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615675/a-commentary-on-homozygous-p-glu87lys-variant-in-isca1-is-associated-with-a-multiple-mitochondrial-dysfunctions-syndrome
#5
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615674/meta-analysis-of-genome-wide-snp-and-pathway-based-associations-for-facets-of-neuroticism
#6
Song E Kim, Han-Na Kim, Yeo-Jun Yun, Seong Gu Heo, Juhee Cho, Min-Jung Kwon, Yoosoo Chang, Seungho Ryu, Hocheol Shin, Chol Shin, Nam H Cho, Yeon Ah Sung, Hyung-Lae Kim
Neuroticism is a heritable personality trait that is comprised of distinct sub-factors, or facets. Sub-factors of neuroticism are linked to different emotional states or psychiatric symptoms and studying the genetic variants associated with these facets may help reveal the biological mechanisms underlying psychiatric disorders. In the present study, a meta-analysis of genome-wide association studies for six facets of neuroticism was performed in 5584 participants from three cohorts. Additionally, a Gene Set Enrichment Analysis was conducted to find biological pathways associated with each facet...
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#7
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
June 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566770/phylogeny-of-y-chromosome-haplogroup-c3b-f1756-an-important-paternal-lineage-in-altaic-speaking-populations
#8
Lan-Hai Wei, Yun-Zhi Huang, Shi Yan, Shao-Qing Wen, Ling-Xiang Wang, Pan-Xin Du, Da-Li Yao, Shi-Lin Li, Ya-Jun Yang, Li Jin, Hui Li
In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P53.1-, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms...
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566769/a-commentary-on-ankrd11-variants-cause-variable-clinical-features-associated-with-kbg-syndrome-and-coffin-siris-like-syndrome
#9
Tadashi Kaname, Kumiko Yanagi
No abstract text is available yet for this article.
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566768/moving-towards-successful-exon-skipping-therapy-for-duchenne-muscular-dystrophy
#10
REVIEW
Akinori Nakamura
Duchenne muscular dystrophy (DMD) is an X chromosome-linked lethal muscular disorder with progressing muscle wasting and weakness caused by mutations in the gene encoding a subsarcolemmal protein dystrophin. For a long time, there was no effective cure; however, advances in molecular biology have allowed the development of radical treatment approaches. Among them, exon-skipping therapy using antisense oligonucleotides is very promising, because it corrects the reading frame of the dystrophin-encoding gene and restores protein expression, resulting in the conversion of DMD to a clinically milder form, Becker muscular dystrophy (BMD)...
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539666/replication-and-fine-mapping-of-genetic-predictors-of-lipid-traits-in-african-americans
#11
QiPing Feng, Wei-Qi Wei, Rebecca T Levinson, Jonathan D Mosley, C Michael Stein
Circulating lipid concentrations are among the strongest modifiable risk factors for coronary artery disease (CAD). Most genetic studies have focused on Caucasian populations with little information available for populations of African ancestry. Using a cohort of ~2800 African-Americans (AAs) from a biobank at Vanderbilt University (BioVU), we sought to trans-ethnically replicate genetic variants reported by the Global Lipids Genetics Consortium to be associated with lipid traits in Caucasians, followed by fine-mapping those loci using all available variants on the MetaboChip...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539665/copy-number-variants-and-candidate-gene-mutations-in-isolated-split-hand-foot-malformation
#12
Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV databases, and validated these CNVs using quantitative real-time polymerase chain reaction (qPCR). We tested for the validated CNVs in seven cases from Iowa using qPCR, and also sequenced 36 SHFM candidate genes in all the subjects...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#13
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28515471/clinical-and-molecular-investigation-of-14-japanese-patients-with-complete-tfp-deficiency-a-comparison-with-caucasian-cases
#14
Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Purevsuren Jamiyan, Yuki Hasegawa, Takeshi Taketani, Seiji Fukuda, Ikue Hata, Yo Niida, Yosuke Shigematsu, Kazumoto Iijima, Seiji Yamaguchi
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is often reported in Caucasian countries due to a common mutation. However, the molecular and clinical basis of complete TFP deficiency has not been extensively reported. In this study, 14 Japanese cases (13 families) with complete TFP deficiency, including 9 previously reported cases, were analyzed to clarify the clinical and molecular characteristics of TFP deficiency...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#15
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28490766/sca42-mutation-analysis-in-a-case-series-of-japanese-patients-with-spinocerebellar-ataxia
#16
Mari Kimura, Ichiro Yabe, Yuka Hama, Katsuki Eguchi, Shigehisa Ura, Kazufumi Tsuzaka, Shoji Tsuji, Hidenao Sasaki
Spinocerebellar ataxia (SCA) is a group of dominantly inherited heterogeneous disorders in which 43 subtypes have been identified to date. Recently, Japanese and French families with SCA type 42 (SCA42) were found to have a missense mutation (c.5144G>A; R1715H) in CACNA1G. We performed genetic analysis of 84 unrelated families to find the prevalence of SCA42 in Japan. Two families were found to have the previously reported missense mutation. Clinical presentations of the affected members of these families were similar to those of the previously reported French and Japanese families...
May 11, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28490765/effect-of-genomics-related-literacy-on-non-communicable-diseases
#17
Sho Nakamura, Hiroto Narimatsu, Kayoko Katayama, Ri Sho, Takashi Yoshioka, Akira Fukao, Takamasa Kayama
Recent progress in genomic research has raised expectations for the development of personalized preventive medicine, although genomics-related literacy of patients will be essential. Thus, enhancing genomics-related literacy is crucial, particularly for individuals with low genomics-related literacy because they might otherwise miss the opportunity to receive personalized preventive care. This should be especially emphasized when a lack of genomics-related literacy is associated with elevated disease risk, because patients could therefore be deprived of the added benefits of preventive interventions; however, whether such an association exists is unclear...
May 11, 2017: Journal of Human Genetics
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
#18
https://www.readbyqxmd.com/read/28446798/novel-missense-mutation-in-dll4-in-a-japanese-sporadic-case-of-adams-oliver-syndrome
#19
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
#20
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
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