BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.

abstract：BACKGROUND:Insulin resistance (IR), known to reduce the response to insulin action, develops with obesity leading to type 2 diabetes mellitus (T2DM). The PC-1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. The objective of the present study was to inve...

journal_title：Molecular genetics & genomic medicine

authors： Albegali AA,Shahzad M,Ullah MI,Mahmood S,Rashid M

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X-linked eye disorder arising from...

journal_title：Molecular genetics & genomic medicine

authors： Fioretti T,Ungari S,Savarese M,Cattaneo F,Pirozzi E,Esposito G

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype-phenotype relationship. METHODS:A large c...

journal_title：Molecular genetics & genomic medicine

authors： Chi DV,Tran TH,Nguyen DH,Luong LH,Le PT,Ta MH,Ngo HTT,Nguyen MP,Le-Anh TP,Nguyen DP,Bui TH,Ta VT,Tran VK

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even ...

journal_title：Molecular genetics & genomic medicine

authors： Wang D,Liang S,Zhang X,Dey SK,Li Y,Xu C,Yu Y,Li M,Zhao G,Zhang Z

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mitochondrial tryptophanyl-tRNA s...

journal_title：Molecular genetics & genomic medicine

authors： Maffezzini C,Laine I,Dallabona C,Clemente P,Calvo-Garrido J,Wibom R,Naess K,Barbaro M,Falk A,Donnini C,Freyer C,Wredenberg A,Wedell A

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Lead (Pb) is broadly used in various industries and causes irreversible damage to human tissues, organs, and systems. Studies have revealed that lead exerts toxic effects via interfering with calcium channel. METHODS:In the present study, we investigated whether single nucleotide polymorphisms (SNPs) in TRP...

journal_title：Molecular genetics & genomic medicine

authors： Liu J,Zhang L,Feng L,Xu M,Gao Y,Zhou P,Yu Z,Zhu B,An Y,Zhang H

更新日期：2019-03-01 00:00:00

abstract：:Chromosomal microarray analysis (CMA) is now established as the first-tier cytogenetic diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with developmental delay/intellectual disability (DD/ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). We present ...

journal_title：Molecular genetics & genomic medicine

authors： Zilina O,Teek R,Tammur P,Kuuse K,Yakoreva M,Vaidla E,Mölter-Väär T,Reimand T,Kurg A,Ounap K

更新日期：2014-03-01 00:00:00

abstract：BACKGROUND:Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease-causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched-chain α-keto acid dehydrogenase (BCKDH) complex. In the present study, nov...

journal_title：Molecular genetics & genomic medicine

authors： Nguyen TTN,Vu CD,Nguyen NL,Nguyen TTH,Nguyen NK,Nguyen HH

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in ...

journal_title：Molecular genetics & genomic medicine

authors： Laadhar S,Ben Mansour R,Marrakchi S,Miled N,Ennouri M,Fischer J,Kaddechi MA,Turki H,Fakhfakh F

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Colon cancer is one of most malignant cancers around worldwide. Nearly 20% patients were diagnosed at colon cancer with metastasis. However, the lack of understanding regarding its pathogenesis brings difficulties to study it. METHODS:In this study, we acquired high-sequence data from GEO dataset, and perfo...

journal_title：Molecular genetics & genomic medicine

authors： Yang H,Wu J,Zhang J,Yang Z,Jin W,Li Y,Jin L,Yin L,Liu H,Wang Z

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ-thalassemia and δ-thalassemia are rare inherited disorders which may complicate the diagnosis of β-thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. METHODS:A total of 33,596 subjects w...

journal_title：Molecular genetics & genomic medicine

authors： Zhang J,Yang Y,Li P,Yan Y,Lv T,Zhao T,Zeng X,Li D,Zhou X,Chen H,Su J,Yang T,He J,Zhu B

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem...

journal_title：Molecular genetics & genomic medicine

authors： de la Morena-Barrio ME,Sabater M,de la Morena-Barrio B,Ruhaak RL,Miñano A,Padilla J,Toderici M,Roldán V,Gimeno JR,Vicente V,Corral J

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of 1%-2% in the general population. NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. Here, we identified novel in-frame variants in SMAD6 (c.1168_1...

journal_title：Molecular genetics & genomic medicine

authors： Park JE,Park JS,Jang SY,Park SH,Kim JW,Ki CS,Kim DK

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn-around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively asses...

journal_title：Molecular genetics & genomic medicine

authors： Zheng J,Zhang H,Banerjee S,Li Y,Zhou J,Yang Q,Tan X,Han P,Fu Q,Cui X,Yuan Y,Zhang M,Shen R,Song H,Zhang X,Zhao L,Peng Z,Wang W,Yin Y

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:The mitochondrial DNA m.3243A>G mutation is one the most prevalent mutation causing mitochondrial disease in adult patients. Several cohort studies have used heteroplasmy levels in urinary epithelial cells (UEC) to correlate the genotype of the patients to the clinical severity. However, the interpretation o...

journal_title：Molecular genetics & genomic medicine

authors： de Laat P,Rodenburg RJ,Smeitink JAM,Janssen MCH

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of such duplications on RB1CC1 expression has never been evaluated and partial gene d...

journal_title：Molecular genetics & genomic medicine

authors： Errichiello E,Giorda R,Gambale A,Iolascon A,Zuffardi O,Giglio S

更新日期：2020-12-19 00:00:00

abstract：BACKGROUND:This study set out to determine key lncRNAs correlated with sepsis via constructing competing endogenous RNA (ceRNA) network. METHODS:Three septic patients and three healthy controls were recruited to obtain lncRNA profiles in this current study. Combined with the mRNA profiles by RNA-sequencing, an integra...

journal_title：Molecular genetics & genomic medicine

authors： Guo X,Qin Y,Wang L,Dong S,Yan Y,Bian X,Zhao C

更新日期：2020-11-25 00:00:00

abstract：BACKGROUND:The birth year-dependent onset of breast cancer (BC) in BRCA1/2 mutation carriers suggests a risk-modifying role for reproductive and life style factors. We therefore examined possible associations between these factors and age at diagnosis. METHODS:Cox regression analysis and log-Rank testing were used to ...

journal_title：Molecular genetics & genomic medicine

authors： Rieder V,Salama M,Glöckner L,Muhr D,Berger A,Tea MK,Pfeiler G,Rappaport-Fuerhauser C,Gschwantler-Kaulich D,Weingartshofer S,Singer CF

更新日期：2015-12-10 00:00:00

abstract：:The impact of cryptic relatedness (CR) on genomic association studies is well studied and known to inflate false-positive rates as reported by several groups. In contrast, conventional epidemiological studies for environmental risks, the confounding effect of CR is still uninvestigated. In this study, we investigated ...

journal_title：Molecular genetics & genomic medicine

authors： Shibata K,Hozawa A,Tamiya G,Ueki M,Nakamura T,Narimatsu H,Kubota I,Ueno Y,Kato T,Yamashita H,Fukao A,Kayama T,Yamagata University Genomic Cohort Consortiuma.

更新日期：2013-05-01 00:00:00

abstract：BACKGROUND:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI incl...

journal_title：Molecular genetics & genomic medicine

authors： Li L,Liu W,Xu Y,Li M,Tang Q,Yu B,Cai R,Liu S

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:A family with skeletal and craniofacial anomalies is presented. Whole-exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not include the hallmark joint dislocations typically observed in Larsen syndrome. METHODS:Patient consent for the sharing...

journal_title：Molecular genetics & genomic medicine

authors： Kodra N,Diamonstein C,Hauser NS

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:With the availability of raw DNA generated from direct-to-consumer (DTC) testing companies, there has been a proliferation of third-party online services that are available to interpret the raw data for both genealogy and/or health purposes. This study examines the current landscape and downstream clinical i...

journal_title：Molecular genetics & genomic medicine

authors： Wang C,Cahill TJ,Parlato A,Wertz B,Zhong Q,Cunningham TN,Cummings JJ

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by ...

journal_title：Molecular genetics & genomic medicine

authors： Salinas-Torres VM,Gallardo-Blanco HL,Salinas-Torres RA,Cerda-Flores RM,Lugo-Trampe JJ,Villarreal-Martínez DZ,Ibarra-Ramírez M,Martínez de Villarreal LE

更新日期：2020-05-01 00:00:00

abstract：BACKGROUND:Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not alway...

journal_title：Molecular genetics & genomic medicine

authors： Cope H,Spillmann R,Rosenfeld JA,Brokamp E,Signer R,Schoch K,Kelley EG,Sullivan JA,Macnamara E,Lincoln S,Golden-Grant K,Undiagnosed Diseases Network.,Orengo JP,Clark G,Burrage LC,Posey JE,Punetha J,Robertson A,Cogan J

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Incontinentia pigmenti (IP) is a rare X-linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low-level mosaicism existed in the remaining...

journal_title：Molecular genetics & genomic medicine

authors： Kawai M,Kato T,Tsutsumi M,Shinkai Y,Inagaki H,Kurahashi H

更新日期：2020-12-01 00:00:00

abstract：BACKGROUND:Multiple myeloma (MM) is a disease characterized by heterogeneous clinical presentations as well as complex genetic and molecular abnormalities. In MM, cytogenetic analysis is a challenge because of the low proliferation of malignant plasma cells. Thus, interphase fluorescence in situ hybridization (FISH), p...

journal_title：Molecular genetics & genomic medicine

authors： Hamdaoui H,Benlarroubia O,Ait Boujmia OK,Mossafa H,Ouldim K,Belkhayat A,Smyej I,Benrahma H,Dehbi H,Chegdani F

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is usually first suspected on finding elevated isoleucine degradation metabolites in ...

journal_title：Molecular genetics & genomic medicine

authors： Waters PJ,Lace B,Buhas D,Gravel S,Cyr D,Boucher RM,Bernard G,Lévesque S,Maranda B

更新日期：2019-12-01 00:00:00

abstract：:Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, we developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) data (SpliceFinder). SpliceFinder integrates two fun...

journal_title：Molecular genetics & genomic medicine

authors： Spinelli R,Pirola A,Redaelli S,Sharma N,Raman H,Valletta S,Magistroni V,Piazza R,Gambacorti-Passerini C

更新日期：2013-11-01 00:00:00

abstract：BACKGROUND:Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS:We present a patient with global de...

journal_title：Molecular genetics & genomic medicine

authors： Blackburn PR,Selcen D,Gass JM,Jackson JL,Macklin S,Cousin MA,Boczek NJ,Klee EW,Dimberg EL,Kennelly KD,Atwal PS

更新日期：2017-03-30 00:00:00

abstract：BACKGROUND:Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next-generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for population genetic studies of HL. Here, we analyzed clinical and molec...

journal_title：Molecular genetics & genomic medicine

authors： Xiang YB,Xu CY,Xu YZ,Li HZ,Zhou LL,Xu XQ,Chen ZH,Tang SH

更新日期：2020-12-01 00:00:00