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Human Genome Variation

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https://www.readbyqxmd.com/read/28611924/pcs-mva-syndrome-caused-by-an-alu-insertion-in-the-bub1b-gene
#1
Maki Kato, Takema Kato, Eriko Hosoba, Masanao Ohashi, Midori Fujisaki, Mamoru Ozaki, Masatoshi Yamaguchi, Hiroshi Sameshima, Hiroki Kurahashi
We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#2
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28584646/a-novel-mutation-of-nfix-causes-sotos-like-syndrome-malan-syndrome-complicated-with-thoracic-aortic-aneurysm-and-dissection
#3
Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda, Go Taniguchi, Ryo Inuzuka, Kan Nawata, Hiroyuki Morita, Issei Komuro
Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the NFIX gene. Herein, we report a 38-year-old patient with a novel single adenine insertion mutation in exon 2 of the NFIX gene (c.290_291insA). He developed early-onset thoracic aortic aneurysm and dissection, which was a rare complication but deserves particular attention in relatively long-lived patients with Sotos-like phenotypes.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28584645/clinical-manifestations-in-two-patients-with-pyruvate-dehydrogenase-deficiency-and-long-term-survival
#4
Takanobu Yoshida, Jun Kido, Hiroshi Mitsubuchi, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in PDHE1α, presented with lactic acidosis with neurological disorder. These patients were able to survive for a long period under careful nursing care. Herein, we discuss the factors contributing to their relatively stable clinical course, albeit with intellectual disability.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28580161/early-onset-of-fazio-londe-syndrome-the-first-case-report-from-the-arabian-peninsula
#5
Mohammad Arif Hossain, Abdulrahman Obaid, Mohammad Rifai, Hala Alem, Tarek Hazwani, Ali Al Shehri, Majid Alfadhel, Yoshikatsu Eto, Wafaa Eyaid
Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28546864/the-first-japanese-case-of-central-precocious-puberty-with-a-novel-mkrn3-mutation
#6
Junko Nishioka, Hirohito Shima, Maki Fukami, Shuichi Yatsuga, Takako Matsumoto, Kikumi Ushijima, Miyuki Kitamura, Yasutoshi Koga
MKRN3, located on chromosome 15q11.2, encodes makorin ring-finger 3, which is an upstream suppressor of the hypothalamic-pituitary-gonadal axis. Mutation of this gene induces central precocious puberty (CPP). As MKRN3 is maternally imprinted, only the paternal allele is expressed. This is the first report of an 8-year-old Japanese girl with CPP caused by a novel frameshift mutation in MKRN3 (p.Glu229Argfs*3).
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28503313/novel-dhcr7-mutation-in-a-case-of-smith-lemli-opitz-syndrome-showing-46-xy-disorder-of-sex-development
#7
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28503312/germline-and-somatic-genetic-changes-in-multicentric-tumors-obtained-from-a-patient-with-multiple-endocrine-neoplasia-type-1
#8
Akane Naruoka, Sumiko Ohnami, Takeshi Nagashima, Masakuni Serizawa, Keiichi Ohshima, Shumpei Ohnami, Kenichi Urakami, Yasue Horiuchi, Yoshimi Kiyozumi, Masato Abe, Takashi Nakajima, Teiichi Sugiura, Katsuhiko Uesaka, Masatoshi Kusuhara, Ken Yamaguchi
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28480048/three-novel-bmpr2-mutations-associated-with-advanced-pulmonary-arterial-hypertension
#9
Hironori Hara, Norifumi Takeda, Hiroyuki Morita, Masaru Hatano, Eisuke Amiya, Hisataka Maki, Shun Minatsuki, Mizuri Taki, Yasuyuki Shiraishi, Takayuki Fujiwara, Sonoko Maemura, Issei Komuro
Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel BMPR2 mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.1279delG) mutation.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28446958/syndromic-disorder-of-sex-development-due-to-a-novel-hemizygous-mutation-in-the-carboxyl-terminal-domain-of-atrx
#10
Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28446957/small-copy-number-variations-involving-genes-of-the-fgf-pathway-in-differences-in-sex-development
#11
Andrew Hagan, Ina E Amarillo
Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ⩽50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28446956/a-novel-pex1-mutation-in-a-moroccan-family-with-zellweger-spectrum-disorders
#12
Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Zied Riahi, Khalid Snoussi, Hassan Rouba, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28326187/a-novel-c-terminal-truncating-nr5a1-mutation-in-dizygotic-twins
#13
Atsushi Hattori, Hiroaki Zukeran, Maki Igarashi, Suzuka Toguchi, Yuji Toubaru, Takanobu Inoue, Yuko Katoh-Fukui, Maki Fukami
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28326186/a-novel-col1a1-mutation-in-a-family-with-osteogenesis-imperfecta-associated-with-phenotypic-variabilities
#14
Toshiyuki Seto, Toshiyuki Yamamoto, Keiko Shimojima, Haruo Shintaku
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this family showed various complications, such as heart valve diseases and severe scoliosis. The clinical heterogeneity in the family is discussed in this study.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28265457/comprehensive-genetic-exploration-of-selective-tooth-agenesis-of-mandibular-incisors-by-exome-sequencing
#15
Tetsutaro Yamaguchi, Kazuyoshi Hosomichi, Keisuke Yano, Yong-Il Kim, Hirofumi Nakaoka, Ryosuke Kimura, Hirotada Otsuka, Naoko Nonaka, Shugo Haga, Masahiro Takahashi, Tatsuo Shirota, Yoshiaki Kikkawa, Atsushi Yamada, Ryutaro Kamijo, Soo-Byung Park, Masanori Nakamura, Koutaro Maki, Ituro Inoue
Tooth agenesis is described as the absence of one or more teeth. It is caused by a failure in tooth development and is one of the most common human developmental anomalies. We herein report genomic analyses of selective mandibular incisor agenesis (SMIA) using exome sequencing. Two Japanese families with SMIA were subjected to exome sequencing, and family with sequence similarity 65 member A (FAM65), nuclear factor of activated T-cells 3 (NFATC3) and cadherin-related 23 gene (CDH23) were detected. In the follow-up study, 51 Japanese and 32 Korean sporadic patients with SMIA were subjected to exome analyses, and 18 reported variants in PAX9, AXIN2, EDA, EDAR, WNT10A, BMP2 and GREM2 and 27 variants of FAM65, NFATC3 and CDH23 were found in 38 patients...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28265456/a-novel-mutation-in-the-c-propeptide-of-col2a1-causes-atypical-spondyloepiphyseal-dysplasia-congenita
#16
Chieko Kusano, Masaki Takagi, Naoaki Hori, Jun Murotsuki, Gen Nishimura, Tomonobu Hasegawa
Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28224043/pleiotropic-effect-of-a-novel-mutation-in-gcnt2-causing-congenital-cataract-and-a-rare-adult-i-blood-group-phenotype
#17
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, Ravinder Chana, Nicole Thornton, Vincent Plagnol, Anthony T Moore, Alison J Hardcastle
Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28224042/a-new-mutation-found-in-newborn-screening-for-fabry-disease-evaluated-by-plasma-globotriaosylsphingosine-levels
#18
Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama, Kimitoshi Nakamura
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28224041/a-7q31-33q32-1-microdeletion-including-lrrc4-and-grm8-is-associated-with-severe-intellectual-disability-and-characteristics-of-autism
#19
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, Tsukasa Ohashi, Jun Tohyama, Toshiyuki Yamamoto
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28144448/a-novel-slc34a2-mutation-in-a-patient-with-pulmonary-alveolar-microlithiasis
#20
Hiroki Izumi, Jun Kurai, Masahiro Kodani, Masanari Watanabe, Akihiro Yamamoto, Eiji Nanba, Kaori Adachi, Tadashi Igishi, Eiji Shimizu
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in SLC34A2 (c.1390 G>C [G464R] in exon 12).
2017: Human Genome Variation
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