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Human Genome Variation

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https://www.readbyqxmd.com/read/29214040/the-smallest-de-novo-20q11-2-microdeletion-causing-intellectual-disability-and-dysmorphic-features
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28791128/the-first-japanese-patient-with-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-diagnosed-via-pold1-mutation-detection
#13
Asami Okada, Tomohiro Kohmoto, Takuya Naruto, Ichiro Yokota, Yumiko Kotani, Aki Shimada, Yoko Miyamoto, Rizu Takahashi, Aya Goji, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known POLD1 mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28765789/deep-sequencing-reveals-variations-in-somatic-cell-mosaic-mutations-between-monozygotic-twins-with-discordant-psychiatric-disease
#14
Yoshiro Morimoto, Shinji Ono, Akira Imamura, Yuji Okazaki, Akira Kinoshita, Hiroyuki Mishima, Hideyuki Nakane, Hiroki Ozawa, Koh-Ichiro Yoshiura, Naohiro Kurotaki
Monozygotic (MZ) twins have been thought to be genetically identical. However, recent studies have shown discordant variants between them. We performed whole-exome sequencing (WES) in five MZ twin pairs with discordant neurodevelopmental disorders and one healthy control MZ twin to detect discordant variants. We identified three discordant variants confirmed by deep sequencing after analysis by personalized next-generation sequencing (NGS). Three mutations in FBXO38 (chr5:147774428;T>G), SMOC2 (chr6:169051385;A>G) and TDRP (chr8:442616;A>G), were detected with low allele frequency of mutant alleles on deep sequencing, suggesting that these loci are mosaic due to somatic mutations in a developmental stage...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28765788/a-brazilian-case-of-bernard-soulier-syndrome-with-two-distinct-founder-mutations
#15
Kenji Kanda, Shinji Kunishima, Aya Sato, Daisuke Abe, Setsuko Nishijima, Tsuyoshi Ishigami
Bernard-Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the responsible gene. The compound heterozygosity would have occurred from the global and long-term racial migration that brought about an accidental encounter of two rare mutant alleles of different origins.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28736618/a-15q14-microdeletion-involving-meis2-identified-in-a-patient-with-autism-spectrum-disorder
#16
Keiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto, Toshiyuki Yamamoto
We describe a 9-year-old male patient with a 15q14 microdeletion including MEIS2. The patient was born with a ventricular septal defect and submucosal cleft. Mild developmental disability and autism spectrum disorder diagnosed in childhood were also considered to be consequences of MEIS2 haploinsufficiency. The relatively mild developmental delay and lack of additional phenotypic features in this patient indicate that only MEIS2 plays an important role in the observed phenotypic features in the heterozygous state...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28690862/a-novel-three-base-duplication-e243dup-of-gfap-identified-in-a-patient-with-alexander-disease
#17
Rei Yasuda, Tomokatsu Yoshida, Ikuko Mizuta, Masanori Nakagawa, Toshiki Mizuno
Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28690861/whole-exome-sequencing-analysis-of-waardenburg-syndrome-in-a-chinese-family
#18
Dezhong Chen, Na Zhao, Jing Wang, Zhuoyu Li, Changxin Wu, Jie Fu, Han Xiao
Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28690860/the-detection-of-a-novel-insertion-mutation-in-exon-2-of-the-mefv-gene-associated-with-familial-mediterranean-fever-in-a-moroccan-family
#19
Touhami Mejtoute, Hanane Sayel, Jamila El-Akhal, Fatima Z Moufid, Laila Bouguenouch, Ihssane El Bouchikhi, Mustapha Hida, Driss Couissi, Karim Ouldim
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28674633/corrigendum-novel-variation-at-chr11p13-associated-with-cystic-fibrosis-lung-disease-severity
#20
Hong Dang, Paul J Gallins, Rhonda G Pace, Xue-Liang Guo, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Michael R Knowles, Wanda K O'Neal
[This corrects the article DOI: 10.1038/hgv.2016.20.].
2017: Human Genome Variation
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