abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

journal_title：Journal of human genetics

authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

更新日期：2018-06-01 00:00:00

abstract：:The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the a...

journal_title：Journal of human genetics

authors： Minamikawa S,Nozu K,Nozu Y,Yamamura T,Taniguchi-Ikeda M,Nakanishi K,Fujimura J,Horinouchi T,Shima Y,Nakanishi K,Hattori M,Kanda K,Tanaka R,Morisada N,Nagano C,Sakakibara N,Nagase H,Morioka I,Kaito H,Iijima K

更新日期：2018-05-01 00:00:00

abstract：:Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...

journal_title：Journal of human genetics

authors： Suspitsin EN,Yanus GA,Dorofeeva MY,Ledashcheva TA,Nikitina NV,Buyanova GV,Saifullina EV,Sokolenko AP,Imyanitov EN

更新日期：2018-05-01 00:00:00

abstract：:We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes...

journal_title：Journal of human genetics

authors： Martín-Hernández E,Rodríguez-García ME,Chen CA,Cotrina-Vinagre FJ,Carnicero-Rodríguez P,Bellusci M,Schaaf CP,Martínez-Azorín F

更新日期：2018-04-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...

journal_title：Journal of human genetics

authors： Ghanbari M,Peters MJ,de Vries PS,Boer CG,van Rooij JGJ,Lee YC,Kumar V,Uitterlinden AG,Ikram MA,Wijmenga C,Ordovas JM,Smith CE,van Meurs JBJ,Erkeland SJ,Franco OH,Dehghan A

更新日期：2018-04-01 00:00:00

abstract：:Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...

journal_title：Journal of human genetics

authors： Kim YM,Seo GH,Jung E,Jang JH,Kim SZ,Lee BH

更新日期：2018-03-01 00:00:00

abstract：:CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signa...

journal_title：Journal of human genetics

authors： Kurata M,Yamamoto K,Moriarity BS,Kitagawa M,Largaespada DA

更新日期：2018-02-01 00:00:00

abstract：:Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...

journal_title：Journal of human genetics

authors： Suzuki K,Izpisua Belmonte JC

更新日期：2018-02-01 00:00:00

abstract：:B-cell receptors (BCRs) play a critical role in adaptive immunity as they generate highly diverse immunoglobulin repertoires to recognize a wide variety of antigens. To better understand immune responses, it is critically important to establish a quantitative and rapid method to analyze BCR repertoire comprehensively....

journal_title：Journal of human genetics

authors： Kiyotani K,Mai TH,Yamaguchi R,Yew PY,Kulis M,Orgel K,Imoto S,Miyano S,Burks AW,Nakamura Y

更新日期：2018-02-01 00:00:00

abstract：:Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

journal_title：Journal of human genetics

authors： Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

更新日期：2017-12-01 00:00:00

abstract：:Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we re...

journal_title：Journal of human genetics

authors： Oshima Y,Yamamoto T,Ishikawa T,Mishima H,Matsusue A,Umehara T,Murase T,Abe Y,Kubo SI,Yoshiura KI,Makita N,Ikematsu K

更新日期：2017-11-01 00:00:00

abstract：:Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese obs...

journal_title：Journal of human genetics

authors： Zimowski JG,Pawelec M,Purzycka JK,Szirkowiec W,Zaremba J

更新日期：2017-10-01 00:00:00

abstract：: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 P5...

journal_title：Journal of human genetics

authors： Wei LH,Huang YZ,Yan S,Wen SQ,Wang LX,Du PX,Yao DL,Li SL,Yang YJ,Jin L,Li H

更新日期：2017-10-01 00:00:00

abstract：: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 HEC...

journal_title：Journal of human genetics

authors： Kato K,Miya F,Hori I,Ieda D,Ohashi K,Negishi Y,Hattori A,Okamoto N,Kato M,Tsunoda T,Yamasaki M,Kanemura Y,Kosaki K,Saitoh S

更新日期：2017-09-01 00:00:00

abstract：:Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with ...

journal_title：Journal of human genetics

authors： Guo L,Elcioglu NH,Mizumoto S,Wang Z,Noyan B,Albayrak HM,Yamada S,Matsumoto N,Miyake N,Nishimura G,Ikegawa S

更新日期：2017-08-01 00:00:00

abstract：:The classical transmission disequilibrium test (TDT) based on a trio design uses information only on the allele transmitted by a heterozygous parent at a marker locus as homozygous parents are non-informative about linkage. However, the phenotype of an offspring depends on the alleles transmitted by both parents, irre...

journal_title：Journal of human genetics

authors： Kulkarni H,Ghosh S

更新日期：2017-06-01 00:00:00

abstract：:De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...

journal_title：Journal of human genetics

authors： Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

更新日期：2017-06-01 00:00:00

abstract：:Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel ho...

journal_title：Journal of human genetics

authors： Galada C,Shah H,Shukla A,Girisha KM

更新日期：2017-04-01 00:00:00

abstract：:GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we ...

journal_title：Journal of human genetics

authors： Luo X,Zou Y,Tan B,Zhang Y,Guo J,Zeng L,Zhang R,Tan H,Wei X,Hu Y,Zheng Y,Liang D,Wu L

更新日期：2017-04-01 00:00:00

abstract：:Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...

journal_title：Journal of human genetics

authors： Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazq

更新日期：2017-03-01 00:00:00

abstract：:Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

journal_title：Journal of human genetics

authors： Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

更新日期：2017-03-01 00:00:00

abstract：:The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the a...

journal_title：Journal of human genetics

authors： Fradet A,Fitzgerald J

更新日期：2017-02-01 00:00:00

abstract：:Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, ...

journal_title：Journal of human genetics

authors： Wang B,Zhou Y,Leng S,Zheng L,Lv H,Wang F,Tan LH,Sun Y

更新日期：2017-02-01 00:00:00

abstract：:The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. ...

journal_title：Journal of human genetics

authors： Hortigüela M,Fernández-Marmiesse A,Cantarín V,Gouveia S,García-Peñas JJ,Fons C,Armstrong J,Barrios D,Díaz-Flores F,Tirado P,Couce ML,Gutiérrez-Solana LG

更新日期：2017-02-01 00:00:00

abstract：:The use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...

journal_title：Journal of human genetics

authors： Kita Y,Yonemori K,Osako Y,Baba K,Mori S,Maemura K,Natsugoe S

更新日期：2017-01-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...

journal_title：Journal of human genetics

authors： Kamikawaji K,Seki N,Watanabe M,Mataki H,Kumamoto T,Takagi K,Mizuno K,Inoue H

更新日期：2016-12-01 00:00:00

abstract：:To date, genome-wide meta-analyses have identified genetic susceptibility to type 2 diabetes mellitus (T2D) predominantly in populations of European ancestry. However, comprehensive genetic-risk assessment based on previous GWAS loci has not been fully tested in non-European populations. To evaluate whether a genetic-...

journal_title：Journal of human genetics

authors： Go MJ,Lee Y,Park S,Kwak SH,Kim BJ,Lee J

更新日期：2016-12-01 00:00:00

abstract：:Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a comm...

journal_title：Journal of human genetics

authors： Wohlfart S,Hammersen J,Schneider H

更新日期：2016-10-01 00:00:00

abstract：:Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated over...

journal_title：Journal of human genetics

authors： Cohen AS,Gibson WT

更新日期：2016-09-01 00:00:00

abstract：:MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

journal_title：Journal of human genetics

authors： Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

更新日期：2016-09-01 00:00:00

abstract：:Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple H...

journal_title：Journal of human genetics

authors： Boda H,Uchida H,Takaiso N,Ouchi Y,Fujita N,Kuno A,Hata T,Nagatani A,Funamoto Y,Miyata M,Yoshikawa T,Kurahashi H,Inagaki H

更新日期：2016-08-01 00:00:00

abstract：:In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recomb...

journal_title：Journal of human genetics

authors： Saito S,Kurosawa A,Adachi N

更新日期：2016-08-01 00:00:00

abstract：:Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impair...

journal_title：Journal of human genetics

authors： Atwal PS,Medina CR,Burrage LC,Sutton VR

更新日期：2016-07-01 00:00:00

abstract：:Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missort...

journal_title：Journal of human genetics

authors： Velho RV,Ludwig NF,Alegra T,Sperb-Ludwig F,Guarany NR,Matte U,Schwartz IV

更新日期：2016-06-01 00:00:00

abstract：:Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer p...

journal_title：Journal of human genetics

authors： Mannan AU,Singh J,Lakshmikeshava R,Thota N,Singh S,Sowmya TS,Mishra A,Sinha A,Deshwal S,Soni MR,Chandrasekar A,Ramesh B,Ramamurthy B,Padhi S,Manek P,Ramalingam R,Kapoor S,Ghosh M,Sankaran S,Ghosh A,Veeramachaneni

更新日期：2016-06-01 00:00:00

abstract：:Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings ar...

journal_title：Journal of human genetics

authors： Oliveira J,Gonçalves A,Taipa R,Melo-Pires M,Oliveira ME,Costa JL,Machado JC,Medeiros E,Coelho T,Santos M,Santos R,Sousa M

更新日期：2016-06-01 00:00:00

abstract：:The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it ...

journal_title：Journal of human genetics

authors： Kang E,Park SK,Lee JW,Kim Z,Noh WC,Jung Y,Yang JH,Jung SH,Kim SW

更新日期：2016-05-01 00:00:00

abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

journal_title：Journal of human genetics

authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

更新日期：2016-03-01 00:00:00

abstract：:As a result of the combination of great linguistic and cultural diversity, the highland populations of Daghestan present an excellent opportunity to test the hypothesis of language-gene coevolution at a fine geographic scale. However, previous genetic studies generally have been restricted to uniparental markers and h...

journal_title：Journal of human genetics

authors： Karafet TM,Bulayeva KB,Nichols J,Bulayev OA,Gurgenova F,Omarova J,Yepiskoposyan L,Savina OV,Rodrigue BH,Hammer MF

更新日期：2016-03-01 00:00:00

abstract：:Takayasu arteritis (TAK) is an immune-mediated vasculitis affecting large arteries first reported in 1908 from Japan. Case reports of familial onset of TAK from Japan and other countries indicated genetic contribution to TAK onset beyond ethnicity. Genetic studies of TAK have been performed mainly addressing the human...

journal_title：Journal of human genetics

authors： Terao C

更新日期：2016-01-01 00:00:00