Abstract:
BACKGROUND:Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a 3 Mb deletion while others have a nested 1.5 Mb deletion, but rare atypical deletions have also been described. To date, a study using droplet digital PCR (ddPCR) has not been conducted to systematically map the chromosomal breakpoints in individuals with 22q11DS, which would provide important genotypic insight into the various phenotypes observed in this syndrome. METHODS:This study uses ddPCR to assess copy number (CN) changes within the chromosome 22q11 deletion region and allows the mapping of the deletion endpoints. We used eight TaqMan assays interspersed throughout the deleted region of 22q11.2 to characterize the deleted region of chromosome 22 in 80 individuals known to have 22q11DS by FISH. Ten EvaGreen assays were used for finer mapping of the six identified individuals with 22q11DS atypical deletions and covering different regions of chromosome 22. RESULTS:ddPCR provided non-ambiguous CN measurements across the region, confirmed the presence of the deletion in the individuals screened, and led to the identification of five differently sized and located deletions. The majority of the participants (n = 74) had the large 3 Mb deletions, whereas three had the smaller 1.5 Mb deletions, and the remaining three had an interstitial deletion of different size. CONCLUSIONS:The lower cost, rapid execution and high reliability and specificity provided by ddPCR for CN measurements in the 22q11 region constitutes a significant improvement over the variable CN values generated by other technologies. The ability of the ddPCR approach, to provide a high resolution mapping of deletion endpoints may result in the identification of genes that are haplo-insufficient and play a role in the pathogenesis of 22q11DS. Finally, this methodology can be applied to the characterization of other microdeletions throughout the genome.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Hwang VJ,Maar D,Regan J,Angkustsiri K,Simon TJ,Tassone Fdoi
10.1186/s12881-014-0106-5subject
Has Abstractpub_date
2014-10-14 00:00:00pages
106issn
1471-2350pii
s12881-014-0106-5journal_volume
15pub_type
杂志文章abstract:BACKGROUND:Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Sit...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0470-z
更新日期:2017-10-18 00:00:00
abstract:BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-23
更新日期:2008-04-02 00:00:00
abstract:BACKGROUND:The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-108
更新日期:2012-11-16 00:00:00
abstract:BACKGROUND:A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent stu...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-19
更新日期:2011-01-28 00:00:00
abstract:BACKGROUND:Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unk...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0591-z
更新日期:2018-05-16 00:00:00
abstract:BACKGROUND:Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% o...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0361-8
更新日期:2016-12-13 00:00:00
abstract:BACKGROUND:Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom severity varies widely and boys are diagnosed more frequently than girls. ADHD probands were reported to...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0469-5
更新日期:2017-10-05 00:00:00
abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...
journal_title:BMC medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1186/1471-2350-6-23
更新日期:2005-05-27 00:00:00
abstract:BACKGROUND:Multiple genome-wide association studies (GWAS) within European populations have implicated common genetic variants associated with insulin and glucose concentrations. In contrast, few studies have been conducted within minority groups, which carry the highest burden of impaired glucose homeostasis and type ...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/1471-2350-14-98
更新日期:2013-09-25 00:00:00
abstract:BACKGROUND:CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently d...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-91
更新日期:2008-10-22 00:00:00
abstract:BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01123-w
更新日期:2020-09-21 00:00:00
abstract:BACKGROUND:Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylch...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01173-0
更新日期:2020-11-30 00:00:00
abstract:BACKGROUND:In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0432-5
更新日期:2017-07-06 00:00:00
abstract:BACKGROUND:Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current s...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-74
更新日期:2007-12-06 00:00:00
abstract:BACKGROUND:Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to de...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-019-0749-3
更新日期:2019-01-17 00:00:00
abstract:BACKGROUND:Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. METHODS:we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. F...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01108-9
更新日期:2020-10-22 00:00:00
abstract:BACKGROUND:Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activity, has an effect on the risk of cardiovascular disease (CVD) in individuals with a history of dep...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0645-2
更新日期:2018-07-25 00:00:00
abstract:BACKGROUND:Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal domin...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0396-5
更新日期:2017-03-24 00:00:00
abstract:BACKGROUND:Several genome-wide association studies (GWAS) for serum fasting glucose levels have reported HHEX as possibly causal. The objective of this study was to examine the joint effect of smoking on the association of diabetes with the HHEX rs5015480 polymorphism among Korean subjects. METHODS:This replication st...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0582-0
更新日期:2018-05-02 00:00:00
abstract:BACKGROUND:To evaluate the promoter methylation status of MUC2 gene and mRNA expression in patients with hepatocellular carcinoma. METHODS:We analyzed MUC2 methylation by MSP, and MUC2 mRNA by real-time PCR in 74 HCC. RESULTS:MUC2 mRNA were lower in HCC tissues (Mean -ΔCt = -4.70) than that in Non-HCC tissues (Mean -...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-14
更新日期:2013-01-25 00:00:00
abstract:BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including geneti...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0826-7
更新日期:2019-05-24 00:00:00
abstract:BACKGROUND:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-25
更新日期:2008-04-10 00:00:00
abstract:BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-0971-z
更新日期:2020-02-17 00:00:00
abstract:BACKGROUND:Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defin...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-153
更新日期:2011-11-22 00:00:00
abstract::The Framingham Heart Study, founded in 1948 to examine the epidemiology of cardiovascular disease in a small town outside of Boston, has become the worldwide standard for cardiovascular epidemiology. It is among the longest running, most comprehensively characterized multi-generational studies in the world. Such semin...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-63
更新日期:2007-10-04 00:00:00
abstract:BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-3
更新日期:2007-02-06 00:00:00
abstract:BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-40
更新日期:2009-05-09 00:00:00
abstract:BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-105
更新日期:2009-10-13 00:00:00
abstract:BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0762-6
更新日期:2019-02-08 00:00:00
abstract:BACKGROUND:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0210-1
更新日期:2015-08-30 00:00:00