Abstract:
BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development of NCL/P in the embryo. OBJECTIVE:As the mechanism by which folic acid and choline supplementation prevents NCL/P is poorly understood, the relationship between 16 polymorphic variants of 12 genes encoding enzymes involved in the metabolism of these two nutrients and the risk of facial clefts was investigated. RESULTS:It was found that individuals with the AA genotype of the BHMT rs3733890 polymorphism have a significantly lower risk of orofacial clefts (OR 0.1450, 95% CI 0.0420 to 0.4995; p=0.0005; p(corr)=0.008). It was also demonstrated that the rs7639752 polymorphism of the PCYT1A gene increases the risk of NCL/P nearly twofold in the Polish population (OR 1.891, 95% CI 1.151 to 3.107; p=0.011), but this association would not withstand correction for multiple testing (p(corr)=0.176). The genetic variations in CBS, MTHFD1, MTHFR, MTR, MTRR, TCN2, BHMT2, CHDH, CHKA, and PEMT were not separately correlated with NCL/P risk. However, the Multifactor Dimensionality Reduction (MDR) analysis showed a significant epistatic interaction between MTHFR (rs1801133), MTR (rs1805087), and PEMT (rs4646406) in NCL/P susceptibility. CONCLUSION:This study demonstrates that choline metabolism may play an important role in the aetiology of NCL/P. Polymorphic variants of BHMT and PCYT1A and interactions between genes of choline and folate metabolism might influence the risk of NCL/P in the Polish population.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PPdoi
10.1136/jmg.2009.070029subject
Has Abstractpub_date
2010-12-01 00:00:00pages
809-15issue
12eissn
0022-2593issn
1468-6244pii
jmg.2009.070029journal_volume
47pub_type
杂志文章abstract::A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.1.12
更新日期:1983-02-01 00:00:00
abstract:INTRODUCTION:Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often defi...
journal_title:Journal of medical genetics
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doi:10.1136/jmg.39.12.882
更新日期:2002-12-01 00:00:00
abstract::Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.6.376
更新日期:1990-06-01 00:00:00
abstract::We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the fami...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.6.382
更新日期:1989-06-01 00:00:00
abstract:BACKGROUND:Dyslipidaemia, a key risk factor for cardiovascular disease (CVD), is strongly influenced by genetic factors. OBJECTIVE:To identify genetic factors affecting blood lipid concentrations and CVD risk factors in the Korean population by a candidate gene association analysis. METHODS:21 single nucleotide polym...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.081000
更新日期:2011-01-01 00:00:00
abstract::The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was hete...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.25.6.377
更新日期:1988-06-01 00:00:00
abstract::We describe a child with typical features of the 3-M syndrome who presented with acute hydrocephalus owing to haemorrhage from one of two intracranial cerebral vascular aneurysms. We suggest that other children with this disorder should be screened for similar complications. ...
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pub_type: 杂志文章
doi:10.1136/jmg.29.6.425
更新日期:1992-06-01 00:00:00
abstract::We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 whic...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.057570
更新日期:2008-08-01 00:00:00
abstract::Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five fami...
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pub_type: 杂志文章
doi:10.1136/jmg.38.7.430
更新日期:2001-07-01 00:00:00
abstract:PURPOSE:Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:2020-12-21 00:00:00
abstract::A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.2.142
更新日期:1977-04-01 00:00:00
abstract::A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.11.715
更新日期:1990-11-01 00:00:00
abstract::Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2008.060871
更新日期:2009-01-01 00:00:00
abstract::We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.4.284
更新日期:1998-04-01 00:00:00
abstract::There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.7.426
更新日期:1990-07-01 00:00:00
abstract::PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA and mitochondrial DNA for inherited disorders, as well as somatic var...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106152
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.070565
更新日期:2010-04-01 00:00:00
abstract::Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.4.278
更新日期:1984-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.042119
更新日期:2006-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmedgenet-2017-105012
更新日期:2018-08-01 00:00:00
abstract::Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is des...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.3.250
更新日期:1997-03-01 00:00:00
abstract::Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.5.384
更新日期:1979-10-01 00:00:00
abstract:BACKGROUND:Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-103956
更新日期:2017-01-01 00:00:00
abstract::This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.2.132
更新日期:1977-04-01 00:00:00
abstract::The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established. This study demonstrates that by Mendelian analysis of the SNP genotypes of the parents and a sibling or other appropriate ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.069971
更新日期:2010-10-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.063800
更新日期:2009-05-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2018-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
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更新日期:2003-11-01 00:00:00
abstract::An apparently autosomal recessive syndrome of congenital renal tubular dysplasia and skull ossification defects is described in five infants from two separate, consanguineous, Pakistani Muslim kindreds. The clinical, pathological, and radiological features are similar to the phenotype associated with fetal exposure to...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.7.541
更新日期:1997-07-01 00:00:00