abstract：:Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...

journal_title：Journal of human genetics

authors： Duz MB,Ozyavuz Cubuk P

更新日期：2021-03-01 00:00:00

abstract：:Trisomy 18 (T18) and trisomy 13 (T13) are major concerns in prenatal genetic testing due to their poor prognosis; very low birth weight (VLBW) is also a concern in neonatology. The aim of this study was to investigate the mortality and morbidity of VLBW infants diagnosed with T18/T13 in Japan, compared with those with...

journal_title：Journal of human genetics

authors： Kawasaki H,Yamada T,Takahashi Y,Nakayama T,Wada T,Kosugi S,Neonatal Research Network of Japan.

更新日期：2021-03-01 00:00:00

abstract：:Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a major role in COS etiology, yet, only a few single gene mutations have been discovered. Here we present a diagnostic whole-exome sequencing (WES) in an Israeli ...

journal_title：Journal of human genetics

authors： Alkelai A,Shohat S,Greenbaum L,Schechter T,Draiman B,Chitrit-Raveh E,Rienstein S,Dagaonkar N,Hughes D,Aggarwal VS,Heinzen EL,Shifman S,Goldstein DB,Kohn Y

更新日期：2021-03-01 00:00:00

abstract：:The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...

journal_title：Journal of human genetics

authors： Aguilar-Velázquez JA,Rangel-Villalobos H

更新日期：2021-03-01 00:00:00

abstract：:The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...

journal_title：Journal of human genetics

authors： Carlson JC,Weeks DE,Hawley NL,Sun G,Cheng H,Naseri T,Reupena MS,Tuitele J,Deka R,McGarvey ST,Minster RL

更新日期：2021-02-01 00:00:00

abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

journal_title：Journal of human genetics

authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

更新日期：2021-01-27 00:00:00

abstract：:To conduct a long-term birth cohort study that includes genetic analysis, it is crucial to understand the attitudes of participants to genetic analysis and then take appropriate approaches for addressing their ambiguous and negative attitudes. This study aimed to explore participants' attitudes toward genetic analysis...

journal_title：Journal of human genetics

authors： Yamamoto M,Sakurai K,Mori C,Hata A

更新日期：2021-01-25 00:00:00

abstract：:The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...

journal_title：Journal of human genetics

authors： Yokotsuka-Ishida S,Nakamura M,Tomiyasu Y,Nagai M,Kato Y,Tomiyasu A,Umehara H,Hayashi T,Sasaki N,Ueno SI,Sano A

更新日期：2021-01-06 00:00:00

abstract：:TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia ...

journal_title：Journal of human genetics

authors： Errichiello E,Zagnoli-Vieira G,Rizzi R,Garavelli L,Caldecott KW,Zuffardi O

更新日期：2020-12-01 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Journal of human genetics

authors： Terasaki A,Nakamura M,Urata Y,Hiwatashi H,Yokoyama I,Yasuda T,Onuma T,Wada K,Kaneko S,Kan R,Niwa SI,Hashimoto O,Komure O,Goto YI,Yamagishi Y,Nakano M,Furusawa Y,Sano A

更新日期：2020-11-13 00:00:00

abstract：:Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they ...

journal_title：Journal of human genetics

authors： Miyake N,Heydari S,Garshasbi M,Saitoh S,Nasiri J,Hamanaka K,Takata A,Matsumoto N,Beheshti FH,Chaleshtori ARS

更新日期：2020-10-09 00:00:00

abstract：:Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...

journal_title：Journal of human genetics

authors： Nakano E,Yoshida A,Miyama Y,Yabuuchi T,Kajiho Y,Kanda S,Miura K,Oka A,Harita Y

更新日期：2020-10-01 00:00:00

abstract：:Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for unbalanced live-born offspring, miscarriages, or other fertility pro...

journal_title：Journal of human genetics

authors： Sismani C,Rapti SM,Iliopoulou P,Spring A,Neroutsou R,Lagou M,Robola M,Tsitsopoulos E,Kousoulidou L,Alexandrou A,Papaevripidou I,Theodosiou A,Syrrou M,Fuchs S,Hempel M,Huhle D,Liehr T,Ziegler M,Duesberg M,Velissariou

更新日期：2020-09-01 00:00:00

abstract：:Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...

journal_title：Journal of human genetics

authors： Sakamoto M,Kouhei D,Haniffa M,Silva S,Troncoso M,Santander P,Schonstedt V,Stecher X,Okamoto N,Hamanaka K,Mizuguchi T,Mitsuhashi S,Miyake N,Matsumoto N

更新日期：2020-09-01 00:00:00

abstract：:Genetic testing for BRCA1/2 mutations has become the standard clinical practice. Recent findings suggest the clinical significance of multigene panel testing of BRCA1/2 and other cancer-related genes. However, the clinical features of patients with breast cancer with germline mutations identified using multigene panel...

journal_title：Journal of human genetics

authors： Hata C,Nakaoka H,Xiang Y,Wang D,Yang A,Liu D,Liu F,Zou Q,Wei L,Zheng K,Inoue I,You H

更新日期：2020-07-01 00:00:00

abstract：:Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants a...

journal_title：Journal of human genetics

authors： Dimopoulou C,Lundgren JD,Sundal J,Ullum H,Aukrust P,Nielsen FC,Marvig RL

更新日期：2020-03-01 00:00:00

abstract：:Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic C...

journal_title：Journal of human genetics

authors： Lin M,Zhao S,Liu G,Huang Y,Yu C,Zhao Y,Wang L,Zhang Y,Yan Z,Wang S,Liu S,Liu J,Ye Y,Chen Y,Yang X,Tong B,Wang Z,Yang X,Niu Y,Li X,Wang Y,Su J,Yuan J,Zhao H,Zhang S,Qiu G,Deciphering Disorders Involving

更新日期：2020-03-01 00:00:00

abstract：:During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...

journal_title：Journal of human genetics

authors： Mitsuhashi S,Matsumoto N

更新日期：2020-01-01 00:00:00

abstract：:Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...

journal_title：Journal of human genetics

authors： Janssen B,Bellis S,Koller T,Tischkowitz M,Liau SS

更新日期：2020-01-01 00:00:00

abstract：:Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients...

journal_title：Journal of human genetics

authors： Lee AJ,Nam SH,Park JM,Kanwal S,Choi YJ,Lee HJ,Lee KS,Lee JE,Park JS,Choi BO,Chung KW

更新日期：2019-09-01 00:00:00

abstract：:Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. N...

journal_title：Journal of human genetics

authors： Chen Q,Zhao Y,Qian Y,Lu C,Shen G,Dai J

更新日期：2019-09-01 00:00:00

abstract：:The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only...

journal_title：Journal of human genetics

authors： Rouzier C,Chaussenot A,Fragaki K,Serre V,Ait-El-Mkadem S,Richelme C,Paquis-Flucklinger V,Bannwarth S

更新日期：2019-07-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked short stature and become physically handicapped. This study evaluated the growth patterns of patients treated with enzyme replacement therapy (ERT), compared with those of untreated patients. Cross-secti...

journal_title：Journal of human genetics

authors： Doherty C,Stapleton M,Piechnik M,Mason RW,Mackenzie WG,Yamaguchi S,Kobayashi H,Suzuki Y,Tomatsu S

更新日期：2019-07-01 00:00:00

abstract：:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

journal_title：Journal of human genetics

authors： Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

更新日期：2019-07-01 00:00:00

abstract：:Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neu...

journal_title：Journal of human genetics

authors： Liu CM,Liu YL,Hwu HG,Fann CS,Yang UC,Hsu PC,Chang CC,Chen WJ,Hwang TJ,Hsieh MH,Liu CC,Chien YL,Lin YT,Tsuang MT

更新日期：2019-07-01 00:00:00

abstract：:ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...

journal_title：Journal of human genetics

authors： Thiha K,Mashimo Y,Suzuki H,Hamada H,Hata A,Hara T,Tanaka T,Ito K,Onouchi Y,Japan Kawasaki Disease Genome Consortium.

更新日期：2019-06-01 00:00:00

abstract：:We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic v...

journal_title：Journal of human genetics

authors： Mizuguchi T,Suzuki T,Abe C,Umemura A,Tokunaga K,Kawai Y,Nakamura M,Nagasaki M,Kinoshita K,Okamura Y,Miyatake S,Miyake N,Matsumoto N

更新日期：2019-05-01 00:00:00

abstract：:Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and in...

journal_title：Journal of human genetics

authors： Kamatani N,Kushiyama A,Toyo-Oka L,Toyo-Oka T

更新日期：2019-04-01 00:00:00

abstract：:Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. The patient had three atypical symptoms of Schimmelpenning syndrome: renov...

journal_title：Journal of human genetics

authors： Nagatsuma M,Takasawa K,Yamauchi T,Nakagawa R,Mizuno T,Tanaka E,Yamamoto K,Uemura N,Kashimada K,Morio T

更新日期：2019-02-01 00:00:00

abstract：:Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene enco...

journal_title：Journal of human genetics

authors： Liaqat K,Schrauwen I,Raza SI,Lee K,Hussain S,Chakchouk I,Nasir A,Acharya A,Abbe I,Umair M,Ansar M,Ullah I,Shah K,University of Washington Center for Mendelian Genomics.,Bamshad MJ,Nickerson DA,Ahmad W,Leal SM

更新日期：2019-02-01 00:00:00

abstract：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

journal_title：Journal of human genetics

authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

更新日期：2019-01-01 00:00:00

abstract：:GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

journal_title：Journal of human genetics

authors： Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

更新日期：2019-01-01 00:00:00

abstract：:Essential hypersomnia (EHS) is a lifelong disorder characterized by excessive daytime sleepiness without cataplexy. EHS is associated with human leukocyte antigen (HLA)-DQB1*06:02, similar to narcolepsy with cataplexy (narcolepsy). Previous studies suggest that DQB1*06:02-positive and -negative EHS are different in te...

journal_title：Journal of human genetics

authors： Miyagawa T,Khor SS,Toyoda H,Kanbayashi T,Imanishi A,Sagawa Y,Kotorii N,Kotorii T,Ariyoshi Y,Hashizume Y,Ogi K,Hiejima H,Kamei Y,Hida A,Miyamoto M,Ikegami A,Wada Y,Takami M,Higashiyama Y,Miyake R,Kondo H,Fujimura

更新日期：2018-12-01 00:00:00

abstract：:Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to...

journal_title：Journal of human genetics

authors： Lou X,Shi H,Wen S,Li Y,Wei X,Xie J,Ma L,Yang Y,Fang H,Lyu J

更新日期：2018-12-01 00:00:00

abstract：:Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking. To identify genetic variants...

journal_title：Journal of human genetics

authors： Wang K,Zhao S,Zhang Q,Yuan J,Liu J,Ding X,Song X,Lin J,Du R,Zhou Y,Sugimoto M,Chen W,Yuan B,Liu J,Yan Z,Liu B,Zhang Y,Li X,Niu Y,Long B,Shen Y,Zhang S,Abe K,Su J,Wu Z,Wu N,Liu P,Yang X,Deciphering

更新日期：2018-11-01 00:00:00

abstract：:Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1 disease-causing variants cause Gorlin syndrome. We describe a girl with extreme megalencephaly, developmental delay and severe intellectual disability. Dysmorphic features ...

journal_title：Journal of human genetics

authors： Zombor M,Kalmár T,Maróti Z,Zimmermann A,Máté A,Bereczki C,Sztriha L

更新日期：2018-11-01 00:00:00

abstract：:Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identifi...

journal_title：Journal of human genetics

authors： Teerlink CC,Bernhisel R,Cannon-Albright LA,Rollins MD

更新日期：2018-10-01 00:00:00

abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

journal_title：Journal of human genetics

authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

更新日期：2018-09-01 00:00:00

abstract：:Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose ba...

journal_title：Journal of human genetics

authors： Matsunoshita N,Nozu K,Yoshikane M,Kawaguchi A,Fujita N,Morisada N,Ishimori S,Yamamura T,Minamikawa S,Horinouchi T,Nakanishi K,Fujimura J,Ninchoji T,Morioka I,Nagase H,Taniguchi-Ikeda M,Kaito H,Iijima K

更新日期：2018-07-01 00:00:00

abstract：:Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic diso...

journal_title：Journal of human genetics

authors： Gillentine MA,Lupo PJ,Stankiewicz P,Schaaf CP

更新日期：2018-07-01 00:00:00