Abstract:
BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. CASE PRESENTATION:We present a case of delayed-onset PPD in a Chinese man. The 35-year-old proband presented with an almost 20-year history of pain and limitations in mobility in multiple joints. Based on the clinical manifestations, the patient was diagnosed with PPD; however, there was no specific evidence to confirm this diagnosis. Through mutational analyses, two WIPS3 mutations in exon 4, including a novel frameshift mutation (c.670dupA) in the paternal allele and an already described nonsense mutation (c.756C > A, p.Cys252*) in the maternal allele, were identified in the proband. Thus, the patient was diagnosed with PPD. Furthermore, we found that the proband's son only carried one of the mutations (c.670dupA) and therefore determined that he would not be affected by PPD in the future. CONCLUSIONS:In this case, we successfully diagnosed the disease that the proband was affected precisely after the reunion of clinical diagnosis and genetic analysis. These findings demonstrate the clinical utility of genetic analysis to diagnose skeletal dysplasia and guide genetic counseling.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Hu Q,Liu J,Wang Y,Wang J,Shi H,Sun Y,Wu X,Yang C,Teng Jdoi
10.1186/s12881-017-0507-3subject
Has Abstractpub_date
2017-12-15 00:00:00pages
149issue
1issn
1471-2350pii
10.1186/s12881-017-0507-3journal_volume
18pub_type
杂志文章abstract:BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0920-x
更新日期:2019-11-21 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: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:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0404-9
更新日期:2017-05-03 00:00:00
abstract:BACKGROUND:Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHOD...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0692-8
更新日期:2018-10-03 00:00:00
abstract:BACKGROUND:Southern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well. METHODS:People resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0818-7
更新日期:2019-05-22 00:00:00
abstract:BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01159-y
更新日期:2020-11-10 00:00:00
abstract:BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-35
更新日期:2006-04-05 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:The chromosome 7q32 region is linked to metabolic syndrome and obesity related traits in the Family Heart Study. As part of a fine mapping study of the region, we evaluated the relationship of polymorphisms to fasting glucose levels and Type 2 diabetes. METHODS:Thirty-nine HapMap defined tag SNPs in a 1.08 ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-46
更新日期:2008-05-22 00:00:00
abstract:BACKGROUND:Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in North Africa. However, th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-49
更新日期:2010-03-30 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:BACKGROUND:Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS:Two two-generation Turkish families with a total o...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-15-74
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-21
更新日期:2004-08-13 00:00:00
abstract:BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-20
更新日期:2012-03-28 00:00:00
abstract:BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0337-8
更新日期:2016-10-12 00:00:00
abstract:BACKGROUND:Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-119
更新日期:2012-12-10 00:00:00
abstract:BACKGROUND:X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0309-z
更新日期:2016-07-19 00:00:00
abstract:BACKGROUND:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-117
更新日期:2010-07-29 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 of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC)...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0870-3
更新日期:2019-08-16 00:00:00
abstract:BACKGROUND:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0548-2
更新日期:2018-03-05 00:00:00
abstract:BACKGROUND:Recent genome-wide association (GWA) studies have identified several unsuspected genes associated with type 2 diabetes (T2D) with previously unknown functions. In this investigation, we have examined the role of 9 most significant SNPs reported in GWA studies: [peroxisome proliferator-activated receptor gamm...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-59
更新日期:2008-07-03 00:00:00
abstract:BACKGROUND:Schizophrenia is a highly heritable complex psychiatric disorder with an underlying pathophysiology that is still not well understood. Metaanalyses of schizophrenia linkage studies indicate numerous but rather large disease-associated genomic regions, whereas accumulating gene- and protein expression studies...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-39
更新日期:2008-05-06 00:00:00
abstract:BACKGROUND:The number of genome-wide association studies (GWAS) is growing rapidly leading to the discovery and replication of many new disease loci. Combining results from multiple GWAS datasets may potentially strengthen previous conclusions and suggest new disease loci, pathways or pleiotropic genes. However, no dat...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-6
更新日期:2009-01-22 00:00:00
abstract:BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-53
更新日期:2007-08-09 00:00:00
abstract:BACKGROUND:Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment and follow-up. A recent genome-wide association study revealed four genetic loci, which were associated...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-20
更新日期:2011-02-04 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:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal musc...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-77
更新日期:2009-08-14 00:00:00
abstract:BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-59
更新日期:2007-09-05 00:00:00