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Human Genome Variation

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https://www.readbyqxmd.com/read/29423242/a-novel-loss-of-function-mutation-in-hace1-is-linked-to-a-genetic-disorder-in-a-patient-from-india
#1
Nivedita Hariharan, Samathmika Ravi, Bulagonda Eswarappa Pradeep, Koushik Narayan Subramanyam, Bibha Choudhary, Subhashini Srinivasan, Prakash Khanchandani
A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonatal screening to assign novel functions. Here, we report a novel loss-of-function mutation (p.Trp370*) in the HACE1 gene that is associated with a rare congenital neurodevelopmental disorder in a boy from a remote village in southern India...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29423241/novel-rare-variations-in-genes-that-regulate-developmental-change-in-n-methyl-d-aspartate-receptor-in-patients-with-schizophrenia
#2
Akane Yoshikawa, Fumichika Nishimura, Aya Inai, Yosuke Eriguchi, Masaki Nishioka, Atsuhiko Takaya, Mamoru Tochigi, Yoshiya Kawamura, Tadashi Umekage, Kayoko Kato, Tsukasa Sasaki, Kiyoto Kasai, Chihiro Kakiuchi
The mechanism underlying the vulnerability to developing schizophrenia (SCZ) during adolescence remains elusive. Hypofunction of N-methyl-d-aspartate receptors (NMDARs) has been implicated in the pathophysiology of SCZ. During development, the composition of synaptic NMDARs dramatically changes from NR2B-containing NMDARs to NR2A-containing NMDARs through the phosphorylation of NR2B S1480 or Y1472 by CDK5, CSNK2A1, and EphB2, which plays a pivotal role in the maturation of neural circuits. We hypothesized that the dysregulation of developmental change in NMDARs could be involved in the onset of SCZ...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29387438/novel-and-recurrent-rnf213-variants-in-japanese-pediatric-patients-with-moyamoya-disease
#3
Hiroyuki Akagawa, Maki Mukawa, Tadashi Nariai, Shunsuke Nomura, Yasuo Aihara, Hideaki Onda, Taku Yoneyama, Takumi Kudo, Kazutaka Sumita, Taketoshi Maehara, Takakazu Kawamata, Hidetoshi Kasuya
Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant in East Asian patients. We identified three putatively deleterious variants of this gene from three pediatric patients: two were novel, and one was a recurrent missense variant previously reported in other pediatric patients...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29354277/a-novel-de-novo-mutation-in-col2a1-leading-to-spondyloepiphyseal-dysplasia-congenita-in-a-chinese-family
#4
Qiuhong Xiong, Yi Liu, Yu Xue, Shichao Liu, Jing Wang, Ping Li, Changxin Wu, Yanling Yang, Han Xiao
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutation in the COL2A1 gene, c.1150G>A (p.Gly384Ser), which may impair protein stability and lead to dysfunction of type II collagen.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29333274/report-of-an-italian-family-carrying-a-typical-indian-variant-of-the-nilgiris-tribal-groups-resulting-from-a-de-novo-occurrence
#5
Giulia Canu, Giorgia Mazzuccato, Andrea Urbani, Angelo Minucci
G6PD deficiency is quite common in Italy where it is characterized by extreme molecular and biochemical heterogeneity. We report a 15-year-old Italian boy with G6PD Nilgiri (c.593G>A, p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically characterized, and the molecular screening of the family highlighted a de novo mutational event. To date, this family is the first Caucasian family carrying the G6PD Nilgiri variant.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29367877/wnt10a-variants-isolated-from-japanese-patients-with-congenital-tooth-agenesis
#6
Junichiro Machida, Hiroaki Goto, Tadashi Tatematsu, Akio Shibata, Hitoshi Miyachi, Katsu Takahashi, Hiroto Izumi, Atsuo Nakayama, Kazuo Shimozato, Yoshihito Tokita
It has been reported that dozens of WNT10A variants are associated with human isolated tooth agenesis, however, little is known about the precise phenotypes. In 50 Japanese patients with severe congenital tooth agenesis, we identified 11 patients with WNT10A variants. Comparing phenotypes between the tooth agenesis patients carrying the wild-type and variants of WNT10A, we revealed that the development of lateral incisors is relatively susceptive to insufficiency of WNT/β-catenin signaling.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29263794/a-novel-homozygous-missense-mutation-in-bhlha9-causes-mesoaxial-synostotic-syndactyly-with-phalangeal-reduction-in-a-pakistani-family
#7
Amjad Khan, Rongrong Wang, Shirui Han, Wasim Ahmad, Xue Zhang
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had BHLHA9 mutations have been reported. The present report describes a consanguineous Pakistani family with five affected individuals with MSSD who exhibited an autosomal recessive pattern. Genotyping followed by Sanger sequencing was performed, and we identified a novel homozygous missense mutation (c.311T>C, p...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29238604/novel-pax6-mutation-reported-in-an-aniridia-patient
#8
Andrew Winegarner, Yoshinori Oie, Satoshi Kawasaki, Nozomi Nishida, Kohji Nishida
An aniridia patient was found to have a novel PAX6 mutation. A genetic duplication within PAX6, which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29214040/the-smallest-de-novo-20q11-2-microdeletion-causing-intellectual-disability-and-dysmorphic-features
#9
Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu, Kazumoto Iijima
The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29138691/a-novel-dars2-mutation-in-a-japanese-patient-with-leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-but-no-lactate-elevation
#10
Keiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, Satoko Miyatake, Noriko Miyake, Jun-Ichi Takanashi, Naomichi Matsumoto, Toshiyuki Yamamoto
The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (splicing error). This provides further evidence that most patients with LBSL show compound heterozygous mutations in DARS2 in association with a common splicing mutation in the splicing acceptor site of intron 2.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29138690/factor-xi-gene-variants-in-factor-xi-deficient-patients-of-southern-italy-identification-of-a-novel-mutation-and-genotype-phenotype-relationship
#11
Giovanni L Tiscia, Giovanni Favuzzi, Maria R Lupone, Filomena Cappucci, Michele Schiavulli, Valentina Mirabelli, Giovanna D'Andrea, Elena Chinni, Nicola Giuliani, Rocco Caliandro, Elvira Grandone
Congenital Factor XI (FXI) deficiency shows a high variability in clinical phenotype. To date, many allele variants have been shown to cause this bleeding disorder. However, the genotype-phenotype relationship is difficult to establish. This report provides insights into this bleeding disorder. Sixteen unrelated Italian index cases with congenital FXI deficiency and their relatives were investigated. After the identification of the deficiency, we obtained DNA from each subject and analyzed the FXI gene using direct sequencing...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29104756/factor-vii-deficiency-a-novel-missense-variant-and-genotype-phenotype-correlation-in-patients-from-southern-italy
#12
Giovanni Tiscia, Giovanni Favuzzi, Elena Chinni, Donatella Colaizzo, Lucia Fischetti, Mariano Intrieri, Maurizio Margaglione, Elvira Grandone
This study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency. From 2013 to 2016, 10 subjects were referred to our center because of a prolonged prothrombin time identified during routine or presurgery examinations or after a laboratory assessment of a bleeding episode. Mutation characterization was performed using the bioinformatics applications PROMO, SIFT, and Polyphen-2. Structural changes in the factor VII protein were analyzed using the SPDB viewer tool...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29104755/combined-approach-for-finding-susceptibility-genes-in-dish-chondrocalcinosis-families-whole-genome-wide-linkage-and-ibs-ibd-studies
#13
Ana Rita Couto, Bruna Parreira, Russell Thomson, Marta Soares, Deborah M Power, Jim Stankovich, Jácome Bruges Armas, Matthew A Brown
Twelve families with exuberant and early-onset calcium pyrophosphate dehydrate chondrocalcinosis (CC) and diffuse idiopathic skeletal hyperostosis (DISH), hereafter designated DISH/CC, were identified in Terceira Island, the Azores, Portugal. Ninety-two (92) individuals from these families were selected for whole-genome-wide linkage analysis. An identity-by-descent (IBD) analysis was performed in 10 individuals from 5 of the investigated pedigrees. The chromosome area with the maximal logarithm of the odds score (1...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29081981/a-novel-frameshift-mutation-of-syne1-in-a-japanese-family-with-autosomal-recessive-cerebellar-ataxia-type-8
#14
Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa, Tomomi Yamaguchi, Kyoko Takano, Keiko Wakui, Tomoki Kosho, Kunihiro Yoshida, Yoshimitsu Fukushima, Yoshiki Sekijima
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28983407/novel-and-recurrent-col11a1-and-col2a1-mutations-in-the-marshall-stickler-syndrome-spectrum
#15
Long Guo, Nursel H Elcioglu, Zheng Wang, Yasemin K Demirkol, Pinar Isguven, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake, Shiro Ikegawa
Marshall-Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall-Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations were novel. Our findings expand our knowledge of the COL11A1 mutational spectrum that causes Marshall-Stickler syndrome...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28983406/mutation-analysis-of-the-ctns-gene-in-iranian-patients-with-infantile-nephropathic-cystinosis-identification-of-two-novel-mutations
#16
Forough Sadeghipour, Mitra Basiratnia, Ali Derakhshan, Majid Fardaei
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs. The accumulation of cystine in the kidneys becomes apparent with renal tubular Fanconi syndrome between 6 and 12 months of age and leads to renal failure in the first decade of life. The aim of this study was to analyze the CTNS mutations in 20 Iranian patients, from 20 unrelated families, all of whom were afflicted with infantile nephropathic cystinosis...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28912957/characteristics-of-rare-and-private-deletions-identified-in-phenotypically-normal-individuals
#17
Keiko Shimojima, Toshiyuki Yamamoto
Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5 Mb. The genes related to autosomal dominant trait were absent within these CNV deletions.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28819563/novel-clcn7-compound-heterozygous-mutations-in-intermediate-autosomal-recessive-osteopetrosis
#18
Nana Okamoto, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Takahide Komori, Issei Imoto
Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28808579/a-novel-bbs10-mutation-identified-in-a-patient-with-bardet-biedl-syndrome-with-a-violent-emotional-outbreak
#19
Tatsuyuki Ohto, Takashi Enokizono, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including intellectual disability with emotional outbursts and mild obesity. Whole-exome sequencing identified compound heterozygous mutations with NM_024685.3:c.1677C>A [p.(Tyr559*)] and c.1974T>G [p.(Tyr658*)]. To our knowledge, the latter mutation has never been reported previously...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28791129/a-novel-tubb4a-mutation-g96r-identified-in-a-patient-with-hypomyelinating-leukodystrophy-onset-beyond-adolescence
#20
Yongping Lu, Yumiko Ondo, Keiko Shimojima, Hitoshi Osaka, Toshiyuki Yamamoto
The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel TUBB4A mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological symptoms beyond adolescence. This patient shows intermediate clinical features between DYT4 and H-ABC, suggesting that the TUBB4A disorder would constitute a spectrum disorder.
2017: Human Genome Variation
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