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At least 487 records · Page 27Linked to original sources
PubMed1989

Cleft lip with and without cleft palate in blacks: an analysis of 81 patients.

The clinical records of 81 black patients with cleft lip with or without cleft palate were reviewed. Four had midline clefts. Of the remaining 77, 45 were unilateral (left 28, right 17), with 11 of these involving only the primary palate. Bilateral clefts were seen in 32, with only 2 involving just the primary palate. Males and females were approximately equal in number. Two were associated with EEC syndrome. Other congenital anomalies were seen in 9 patients. The family history was positive for clefts in 5 of 65 patients (7.7 percent). A review of 255 white patients with cleft lip with or without cleft palate revealed a positive family history in 94 (37 percent). The difference was statistically significant.

Black People↗
PubMed2004

[The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate].

OBJECTIVE: To study the association of TGF-alpha gene Taq I polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chinese. METHODS: 107 patients with NSCL/P and 136 healthy controls were examined for TGF-alpha/Taq I genotypes. TGF-alpha/Taq I typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific Taq I restriction enzyme (PCR-RELP). RESULTS: The C2 allele frequency of TGF-alpha/Taq I in patients with NSCL/P (16%) was significantly higher than that in healthy controls (8%). The C2 genotype frequency of TGF-alpha/Taq I in NSCL/P patients with positive family history (12.5%) was significantly higher than that in healthy controls. CONCLUSION: These findings demonstrate the role of TGF-alpha as a gene of major effects in the development of nonsyndromic cleft lip with or without cleft palate clefts in human. These findings suggest that a family history of clefting may correlate with the TGF-alpha Taq I rare variation.

Adolescent↗
PubMed2005

[Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate].

Orofacial clefts are one of the most common developmental malformations (OMIM #119530, #119540), which aetiology is very complex and associated with both genetic and environmental factors. One of the main environmental factors increasing the risk of having a child with an oral cleft is maternal cigarette smoking. The effect of maternal smoking may be modified by genes involved in biotransformation of toxic compounds derived from tobacco. Very important role in this process is played by S-glutathione transferase M1 (GSTM1) and S-glutathione transferase T1 (GSTT1) which conjugate glutathione with xenobiotics and promote their removal from human body. The aim of this study was frequency analysis of homozygous deletion of GSTM1 and GSTT1 genes in women having infants with ororfacial clefts and in control group. In this case-control study we used DNA isolated from peripheral blood lymphocytes of 121 mothers having children with isolated cleft lip with or without cleft palate and from 80 control mothers. The common deletions of GSTM1 and GSTT1 were determined by polymerase chain reaction and agarose gel separation. The prevalence of genotype GSTM1(-)/GSTT1(-) was higher in mothers of children with cleft (6.6%) compared to controls (3.7%, p>0.05). Among multiparous mothers of children with cleft (one child with birth defect and at least 2 healthy children, mean number of children - 4) the prevalence of genotype GSTM1(+)/GSTTI(+) was significantly reduced (31.0% vs. 58.7%, p=0.011). A significantly increased risk of giving birth to a child with cleft was found in multiparous subgroup of mothers with GSTM1(-)/GSTT1(-) and GSTM1(-)/ GSTT1(+) genotypes as compared to those with GSTM1(+)IGSTT1(+) genotype (OR 6.96; 95%CI: 1.33-36.57, p<0.01 i 3.05; 95%CI: 1.153-8.05, p<0.02 respectively). We did not observe a significant correlation between smoking status, GSTM1/GSTT1 genotypes and risk of orofacial clefts. Our results suggest that homozygous deletions of GSTM1 and GSTT1 in mother genome might increase the risk of having child with cleft lip with or without cleft palate.

Child↗
PubMed1994

[Tooth development in children with cleft lip and palate. An international inquiry into unilateral cleft lip, jaw and palate].

In a cross-sectional study of 106 European children with unilateral complete cleft lip, alveolus and palate ranging from 10 to 15 years of age, dental maturity was determined using orthopantomograms. The method and standards (the 50th percentile line) of Demirjian were used. The study shows a significant delay of dental maturity in both male and female cleft-affected patients. This delay in tooth development supports Van Limborgh's theory that the origin of clefts is due to the delayed growth and development of parts of the dentofacial area.

Adolescent↗
PubMed1975

Association between cleft lip with or without cleft palate and prenatal exposure to diazepam.

From 278 interviews of women who had infants with selected major malformations, a history of diazepam ingestion in the first trimester of pregnancy was found to be four times more frequent among mothers of children with a cleft lip with or without a cleft palate than among mothers of children with other defects. This association was one of many that was examined in the analysis; thus it is quite possible that it is simply due to chance. This report, however, is the second one linking diazepam to cleft lip with or without cleft palate. Until there are more data bearing on this question, this possible risk should be considered when prescribing diazepam for women in their reproductive years.

Abnormalities, Drug-Induced↗
PubMed2004

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population.

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common craniofacial malformations. Both genetic and environmental factors are involved in the pathogenesis. In addition to its role as an inhibitory neurotransmitter, gamma-aminobutyric acid (GABA) synthesized by glutamic acid decarboxylase (GAD) is presumed to play a role in normal embryonic, especially facial, development. This notion has been substantiated by the fact that Gad67 knockout mice have been shown to have cleft palate. We hypothesized that GAD67 may be involved in the development of NSCLP and investigated the possible association between the GAD67 gene (GAD67) and NSCLP in Japanese patients. We screened 50 probands for single nucleotide polymorphisms (SNPs) in GAD67 using denaturing high performance liquid chromatography (DHPLC) and found seven SNPs. Since two SNPs showed complete linkage disequilibrium (LD) to the other SNPs, we constructed a 5-locus haplotype of GAD67. The frequency distribution of the haplotype differed between NSCLP patients and controls (P = 0.0028). The frequency of -445A, -292A, -147G, 111C, and IVS9-39T haplotype in the NSCLP patients was significantly lower than that in controls (P = 0.00098). In a transmission disequilibrium test (TDT) in 99 parent-offspring trios, we found -445C, -292C, -147G, 111C, and IVS9-39C haplotype was preferentially transmitted to the patients with cleft lip and palate (P = 0.0077). Our data suggest that GAD67 is involved in the pathogenesis of NSCLP in the Japanese population.

Asian People↗
PubMed2005

Bilateral asymmetry in Chinese families with cleft lip with or without cleft palate.

OBJECTIVE: To determine if Chinese individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) display more bilateral asymmetry than do their unaffected relatives. DESIGN/SUBJECTS: A case-control study of 313 individuals with CL/P from Shanghai, China, with 201 unaffected relatives as controls. METHODS: Size-adjusted asymmetry scores were defined by data on middle-finger length, palm length, palpebral fissure width, and ear length. Case-control comparisons used a multivariate repeated measures analysis of variance, paired t tests, and the Wilcoxon signed rank test. RESULTS: The ear-length measure showed a significant increase in fluctuating asymmetry (FA) in individuals with CL/P compared with their unaffected relatives, which was most pronounced in the female cleft lip and palate subgroup (p = .04). No other measures showed any increase in FA. CONCLUSION: Evidence was found for increased FA, as measured by overall ear length, in Chinese individuals with nonsyndromic CL/P, compared with their unaffected family members. The use of bilateral measurements other than dermatoglyphics may prove to be a valuable means of assessing overall developmental stability in individuals with developmental malformations and in their families.

Analysis of Variance↗
PubMed2004

[Study on the association between reduced folate carrier gene polymorphism and congenital heart defects and cleft lip with or without cleft palate].

OBJECTIVE: To study the association between reduced folate carrier gene (RFC1) polymorphism and congenital heart defects (CHD) as well as cleft lip with or without cleft palate (CLP) and to provide epidemiological evidence on genetic markers of CHD and CLP. METHODS: RFC1 (A80G) genotype was detected using RFLP-PCR for blood DNA of the 67 triads with nonsyndromic CHD-affected child, the 82 triads with child-affected cleft lip with or without CLP and the 100 control families without child-affected birth defects. We performed a family-based association test and analyzed the interaction between RFC1 A80G genotype and maternal periconceptional supplementation of folic acid. RESULTS: Offspring of mothers who did not take folic acid had an elevated risk for CHD when comparing with offspring of mothers who did (OR = 2.68, 95% CI: 1.14 - 6.41). There was a statistical association between the risk of CHD and maternal periconceptional folic acid supplementation (chi(2) = 6.213, P < 0.05). In the family-based association test, G allele was positively associated with an increased risk for children CHD (Z = 2.140, P < 0.05) while G allele of RFC1 (A80G) polymorphism might increase the risk for CHD. Elevated risks for either CLP group were not observed between RFC1 genotype using or not using folic acid. CONCLUSION: Our findings suggested that the G allele was likely to be a genetically susceptible allele for CHD. There was possible association between offspring with GG, GA genotype and maternal periconceptional folicacid deficiency.

Abnormalities, Multiple↗
PubMed2002

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

A 4-year-old boy with left cleft lip and cleft palate, multiple minor anomalies and developmental delay revealed an abnormal chromosome 2 with enlarged proximal long arm, de novo, in his karyotype. Fluorescence in situ hybridization with a chromosome 2 library and band-specific YACs confined the duplicated segment to 2q11.1-q13.2 and indicated a direct tandem duplication due to unbalanced crossover between chromatids.

Abnormalities, Multiple↗
PubMed2003

A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families.

Non-syndromic cleft lip with/without cleft palate (CL/P) is a common, usually non-fatal birth defect of complex etiology. Several segregation analyses have demonstrated that genetic factors are important in the pathogenesis of CL/P, most likely through the interaction of several genes of modest effects. The aim of this study was to perform a genome-wide linkage analysis to identify/search for candidate gene loci for CL/P. We conducted a genome-wide search in two large, relatively isolated Syrian families, each one with a large number of cases with CL/P (18 in family 1 and 4 in family 2). A locus with a multipoint LOD score of 2.80 and a 2-point non-parametric MLS LOD of 3.0 was detected on 17p13.1. Other chromosomal regions with multipoint LOD scores > or = 1.2 (P < or = 0.01) included 3p21.2, 4q32.1, and 7q34. These data indicate the possible presence of several susceptibility loci for CL/P and identify a strong candidate locus for this common birth defect on chromosome 17p13.

Chromosome Mapping↗
PubMed2005

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Cleft lip with or without cleft palate is the most frequent craniofacial malformation in humans ( approximately 1/700). Its etiology is multifactorial; some are a result of a genetic mutation, while others may be due to environmental factors, with genetic predisposition playing an important role. The prevalence varies widely between populations and the mode of inheritance remains controversial. The interferon regulatory factor-6 (IRF6) gene has been shown to harbor mutations in patients with van der Woude syndrome, a dominant form of clefts associated with small pits of the lower lip. Moreover IRF6 has been associated with nonsyndromic cleft of the palate (CL/P) in two separate studies. We investigated the role of IRF6 in a set of 195 trios from Belgium. Cleft occurred as an isolated feature. We studied association of the IRF6 locus using two variants: one in the IRF6 gene and the other 100 kpb 3' of the gene. Our independent study group confirms that the IRF6 locus is associated with nonsyndromic cleft lip with or without palate. This result, with previous studies performed in the United States and Italy, shows for the first time the implication of IRF6 in isolated CL/P in northern Europe. It is likely that association to this locus can be identified in various populations and that the IRF6 locus thus represents an important genetic modifier for this multifactorial malformation.

Belgium↗