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Human Genome Variation

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https://www.readbyqxmd.com/read/30323943/exonic-deletions-in-galc-are-frequent-in-japanese-globoid-cell-leukodystrophy-patients
#1
Kaori Irahara-Miyana, Takashi Enokizono, Keiichi Ozono, Norio Sakai
Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the GALC gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11-12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30302266/exome-and-copy-number-variation-analyses-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#2
Kazumi Takahashi, Takahide Hayano, Ryota Sugimoto, Hirofumi Kashiwagi, Mari Shinoda, Yoshihiro Nishijima, Takahiro Suzuki, Shingo Suzuki, Yuko Ohnuki, Akane Kondo, Takashi Shiina, Hirofumi Nakaoka, Ituro Inoue, Shun-Ichiro Izumi
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2 , NAV3 , and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30245840/long-range-haplotype-analysis-of-the-malaria-parasite-receptor-gene-ackr1-in-an-east-african-population
#3
Qinan Yin, Kshitij Srivastava, Amha Gebremedhin, Addisalem Taye Makuria, Willy Albert Flegel
The human ACKR1 gene encodes a glycoprotein expressing the Duffy blood group antigens (Fy). The Duffy protein acts as a receptor for distinct pro-inflammatory cytokines and malaria parasites. We determined the haplotypes of the ACKR1 gene in a population inhabiting a malaria-endemic area. We collected blood samples from 60 healthy volunteers in Ethiopia's southwestern low-altitude tropical region. An assay was devised to amplify the ACKR1 gene as a single amplicon and determine its genomic sequence. All haplotypes were resolved at 5178 nucleotides each, covering the coding sequence (CDS) of the ACKR1 gene and including the 5'- and 3'-untranslated regions (UTR), intron 1, and the 5'- and 3'-flanking regions...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30210801/mitochondrial-dna-3243a-t-mutation-in-a-patient-with-melas-syndrome
#4
Takahiro Ikeda, Hitoshi Osaka, Hiroko Shimbo, Makiko Tajika, Masayo Yamazaki, Ayako Ueda, Kei Murayama, Takanori Yamagata
Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNALeu (UUR) ( MTTL1 ) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of MTTL1 . This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30181892/correction-novel-variants-in-col4a4-and-col4a5-are-rare-causes-of-fsgs-in-two-unrelated-families
#5
Stephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, Nabeel Aslam, Ahmed N Mohammad, Paldeep S Atwal
[This corrects the article DOI: 10.1038/s41439-018-0016-8.].
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30155266/sensorineural-hearing-loss-and-mild-cardiac-phenotype-caused-by-an-eya4-mutation
#6
Satoko Abe, Hidehiko Takeda, Shin-Ya Nishio, Shin-Ichi Usami
EYA4 is a member of the vertebrate eya gene family of transcriptional activators and plays several roles in both embryonic and inner ear development. The majority of EYA4 gene mutations are associated with autosomal dominant non-syndromic hearing loss (DFNA10). In addition, some mutations in this gene cause autosomal dominant syndromic hearing loss with dilated cardiomyopathy. EYA4 is a rare cause of sensorineural hearing loss, and only a limited number of papers regarding mutations in this gene have been published...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30131866/late-onset-ornithine-transcarbamylase-deficiency-caused-by-a-somatic-mosaic-mutation
#7
Tomoko Lee, Maiko Misaki, Hideki Shimomura, Yasuhiko Tanaka, Satoru Yoshida, Kei Murayama, Kimitoshi Nakamura, Ryoji Fujiki, Osamu Ohara, Hideo Sasai, Toshiyuki Fukao, Yasuhiro Takeshima
An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the OTC gene. Despite the presence of a null mutation, he exhibited a milder phenotype, suggesting that the wild-type allele could rescue the function of OTC. The presence of mosaicism has great effects on the clinical phenotype and recurrence-risk assessment, which should be taken into consideration for genetic counseling.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30083364/exome-first-approach-identified-novel-indels-and-gene-deletions-in-mowat-wilson-syndrome-patients
#8
Maria Florencia Gosso, Cristian Rohr, Bianca Brun, Guadalupe Mejico, Fernanda Madeira, Fabian Fay, Melina Klurfan, Martin Vazquez
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat-Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2)...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30083363/a-novel-lmna-mutation-identified-in-a-japanese-patient-with-lmna-associated-congenital-muscular-dystrophy
#9
Akihiko Ishiyama, Aritoshi Iida, Shinichiro Hayashi, Hirofumi Komaki, Masayuki Sasaki, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino
LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular diagnosis in a Japanese girl with L-CMD. A novel heterozygous missense mutation, c.115A>C (p.Asn39His), in LMNA is reported.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30083362/independent-occurrence-of-de-novo-hspd1-and-hip1-variants-in-brothers-with-different-neurological-disorders-leukodystrophy-and-autism
#10
Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, Yuki Ueda, Katsumi Imai, Yukitoshi Takahashi, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto
Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T > G (p.Leu47Val) and HIP1 c.1393G > A (p.Glu465Lys), respectively. These novel variants were predicted to be pathogenic. Both patients also had a known MECP2 variant, c.499C > T (p.Arg167Trp).
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30083361/lack-of-association-between-per3-variable-number-tandem-repeat-and-circadian-rhythm-sleep-wake-disorders
#11
Akiko Hida, Shingo Kitamura, Hiroshi Kadotani, Makoto Uchiyama, Takashi Ebisawa, Yuichi Inoue, Yuichi Kamei, Kazuo Mishima
Circadian rhythm sleep-wake disorders (CRSWDs) are characterized by disturbed sleep-wake patterns. We genotyped a PER3 variable number tandem repeat (VNTR) in 248 CRSWD individuals and 925 controls and found no significant association between the VNTR and CRSWDs or morningness-eveningness (diurnal) preferences in the Japanese population. Although the VNTR has been associated with circadian and sleep phenotypes in some other populations, the polymorphism may not be a universal genetic marker.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30083360/a-recurrent-homozygous-nhlrc1-variant-in-siblings-with-lafora-disease
#12
Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, Tomofumi Fukuda, Mitsuhiro Kato, Mitsuko Nakashima, Naomichi Matsumoto, Hirotomo Saitsu
We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the NHLRC1 gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30083359/a-novel-mlh1-mutation-in-a-japanese-family-with-lynch-syndrome-associated-with-small-bowel-cancer
#13
Yoshika Akizawa, Toshiyuki Yamamoto, Kazuo Tamura, Toshiyuki Kanno, Nobuko Takahashi, Takeshi Ohki, Teppei Omori, Katsutoshi Tokushige, Masakazu Yamamoto, Kayoko Saito
Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1 , MSH2 , MSH6 , and PMS2 , are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30062040/nonsyndromic-intellectual-disability-with-novel-heterozygous-scn2a-mutation-and-epilepsy
#14
Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Takuya Naruto, Kenji Kurosawa
SCN2A mutations are primarily associated with a variety of epilepsy syndromes. Recently, SCN2A has been reported as a gene responsible for nonsyndromic intellectual disability or autism spectrum disorders. Here, we present a case of a 12-year-old girl with nonsyndromic intellectual disability who exhibited a heterozygous de novo missense mutation in SCN2A . She developed seizures during the course of illness. This case suggests that the phenotype of patients with heterozygous SCN2A mutations can be variable...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30038786/co-occurrence-of-frameshift-mutations-in-smad6-and-tcf12-in-a-child-with-complex-craniosynostosis
#15
Andrew T Timberlake, Robin Wu, Carol Nelson-Williams, Charuta G Furey, Kristi I Hildebrand, Scott W Elton, Jeyhan S Wood, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (CS) affects 1 in 2350 live births. Recent studies have shown that a significant fraction of cases are caused by de novo or rare transmitted mutations that promote premature osteoblast differentiation in cranial sutures. Rare heterozygous loss-of-function (LOF) mutations in SMAD6 and TCF12 are highly enriched in patients with non-syndromic sagittal and coronal CS, respectively. Interestingly, both mutations show striking incomplete penetrance, suggesting a role for modifying alleles; in the case of SMAD6 , a common variant near BMP2 drastically increases penetrance of sagittal CS...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/30002862/novel-variants-in-col4a4-and-col4a5-are-rare-causes-of-fsgs-in-two-unrelated-families
#16
Stephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, Aslam Nabeel, Ahmed N Mohammad, Paldeep S Atwal
We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29899997/two-novel-mutations-of-comp-in-japanese-boys-with-pseudoachondroplasia
#17
Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, Kenji Watanabe, Gen Nishimura, Tomonobu Hasegawa
Mutations in the cartilage oligomeric matrix protein ( COMP ) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29899996/biallelic-mutations-of-egfr-in-a-compound-heterozygous-state-cause-ectodermal-dysplasia-with-severe-skin-defects-and-gastrointestinal-dysfunction
#18
Shion Hayashi, Takayuki Yokoi, Chihiro Hatano, Yumi Enomoto, Yoshinori Tsurusaki, Takuya Naruto, Masahisa Kobayashi, Hiroyuki Ida, Kenji Kurosawa
Epidermal growth factor receptor (EGFR), a receptor that recognizes epidermal growth factor, is a very important regulator of cell proliferation and differentiation. To date, three cases of severe ectodermal dysplasia were reported to be caused by an inherited germline homozygous loss-of-function missense mutation of EGFR . This is the first report of a patient with biallelic compound heterozygous mutations in EGFR .
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29899995/high-resolution-melting-analysis-coupled-with-next-generation-sequencing-as-a-simple-tool-for-the-identification-of-a-novel-somatic-brca2-variant-a-case-report
#19
Alessandra Costella, Rossella De Leo, Donatella Guarino, Marco D'Indinosante, Paola Concolino, Giorgia Mazzuccato, Andrea Urbani, Giovanni Scambia, Ettore Capoluongo, Anna Fagotti, Angelo Minucci
In a 72-year-old woman with no associated personal or family history of breast and/or ovarian cancers, we identified a novel somatic pathogenic BRCA2 variant ( c.18_28delAGAGAGGCCAA , p.Lys6Asnfs*4) using next-generation sequencing (NGS). The variant allele frequency (VAF) was 16%, and Sanger sequencing was unable to identify this variant. Adopting a high-resolution melting analysis strategy coupled with NGS, we successfully highlighted the presence of the c.18_28delAGAGAGGCCAA allele.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29899994/two-novel-vcp-missense-variants-identified-in-japanese-patients-with-multisystem-proteinopathy
#20
Michio Inoue, Aritoshi Iida, Shinichiro Hayashi, Madoka Mori-Yoshimura, Atsushi Nagaoka, Shunsuke Yoshimura, Hirokazu Shiraishi, Akira Tsujino, Yuji Takahashi, Ikuya Nonaka, Yukiko K Hayashi, Satoru Noguchi, Ichizo Nishino
VCP mutations were first associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. Now, a new name, "multisystem proteinopathy (MSP)", is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP : c...
2018: Human Genome Variation
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