Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part II: Biochemical and Genetic Analysis

Little, Julian; Gilmour, M. Ian; Mossey, Peter; FitzPatrick, David R.; Cardy, Amanda Hamilton; Clayton‐Smith, Jill; Hill, Alison; Duthie, Susan J.; Fryer, Alan; Molloy, Anne M.; Scott, John M.

doi:10.1597/06-151.1

Cited by 33 publications

(23 citation statements)

References 50 publications

(72 reference statements)

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“…The incidence of clefting in KS patients is significant, as the incidence of cleft lip AE palate in the general population is only 0.1-0.2% [Little et al, 2008]. In addition to cleft lip AE palate, cleft palate alone [Sato et al, 2004] and dental agenesis [Sato et al, 2004] have also been reported in several patients with KS.…”

Section: Discussionmentioning

confidence: 99%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; however, the sensitivity of molecular testing is only about 30% and, therefore, the diagnosis is largely based on clinical findings. We describe the findings in six individuals with KS, which demonstrate the utility of associated anomalies in making this diagnosis. Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss, renal agenesis, and/or synkinesis. Conversely, patients with features of KS should have an audiology evaluation and a renal ultrasound.

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Section: Discussionmentioning

confidence: 99%

Clues to an early diagnosis of Kallmann syndrome

Kaplan

Bernstein

Kwan

et al. 2010

American J of Med Genetics Pt A

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“…Casecontrol studies of folic-acid containing multivitamin supplements [63][64][65][66][67][68] maternal dietary folate intake [64,67,[69][70][71] and red cell and plasma folate [72][73][74][75] are inconsistent. There is some evidence that periconceptional multivitamin supplementation can reduce the birth prevalence of orofacial clefts by 30-50% [64,76,77].…”

Section: Food Fortification With Folic Acid and Multivitaminsmentioning

confidence: 99%

Epidemiology of Oral Clefts 2012: An International Perspective

Mossey

Modell

2012

Frontiers of Oral Biology

463

422

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Classical descriptive epidemiology in the field of cleft lip and palate aims to quantify the problem, and in the higher income countries it is possible to do this with varying degrees of accuracy. This is not however possible in every country in the world, and epidemiology should seek to identify these data gaps with a view to improvement in the situation. Epidemiology must also be investigative and look for trends, associations and inter-population differences, with the aim of supporting aetiological research and advancing the translational agenda. This chapter is set out in three parts and seeks to address all three of the above areas. Birth defects in general and orofacial clefting in particular remain a relatively common and significant problem for not only the individual patients born with these defects in terms of death or disability, but also for their families and for society in general in terms of burden of care and health inequality. In high-income countries, despite very significant advances in treatment, problems in access to care and evidence base for cleft care still exist whereas in the developing world the consequences are lack of access to care and lack of infrastructure to help with quantification of the problem and consequently the ability to address it. The major questions in contemporary cleft lip and palate research surround ways of improving the evidence base for the treatment interventions used to optimise quality of care, and the ultimate scientific and humanitarian objective is primary prevention of those diseases and disorders that are preventable. Descriptive epidemiology underpins research enquiry in both of these major areas.

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“…In a subsequent Netherlands study, case mothers with low vitamin B 12 and B 6 levels had an increased risk of clefts in their children, whereas folate concentrations were not significantly different between case and control mothers (van Rooij et al, 2003). In a U.K.-based case-control study, higher serum and erythrocyte folate concentrations were associated with decreased risk of CLP but an increased risk of CP (Little et al, 2008b). In the Philippines, low plasma PLP concentrations were common and associated with increased cleft risk, although plasma and erythrocyte folate concentrations were inconsistently associated with cleft risk.…”

Section: Introductionmentioning

confidence: 99%

Oral clefts and maternal biomarkers of folate‐dependent one‐carbon metabolism in utah

Munger

Tamura

Johnston

et al. 2011

Birth Defects Research

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BACKGROUND Maternal folate intake and related biomarkers have been inconsistently associated with a risk of oral clefts. METHODS Maternal concentrations of plasma folate (PF) and erythrocyte folate (EF), plasma pyridoxal-5′-phosphate (PLP; active vitamin B6) and total plasma homocysteine (tHcy) were measured in a Utah study with 347 cases and 469 controls. RESULTS Risk of all clefts combined, including cleft lip with or without cleft palate (CL/P) and cleft palate only (CP), was 65% lower in the highest versus lowest PF quartile (odds ratio [OR], 0.35; 95% confidence interval [CI], 0.23–0.53; p-trend < 0.001). Results remained significant in the subgroups with isolated CL/P and CP (p-trend < 0.001 in each). EF results were similar. In the highest versus lowest PLP quartile, risk of CP with other malformations was lower (OR, 0.25; 95% CI, 0.07–0.95); however, no other associations were significant for PLP or tHcy. Differences in mean bio-marker levels between cases and controls widened with an increasing interval between delivery and maternal blood collection. Decreased cleft risk with increasing quartiles of PF, EF, and PLP and decreasing tHcy was more apparent in mothers with a longer versus shorter interval between the index child delivery and blood collection. CONCLUSION Low maternal blood folate concentration was associated with an increased risk of clefts, and the differences in mean case and control PF, EF, PLP, and tHcy concentrations widened over time. Additional mechanistic studies are warranted to elucidate whether an acquired or inherited disorder of folate metabolism plays a role in the etiology of clefts.

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Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part II: Biochemical and Genetic Analysis

Cited by 33 publications

References 50 publications

Clues to an early diagnosis of Kallmann syndrome

Clues to an early diagnosis of Kallmann syndrome

Epidemiology of Oral Clefts 2012: An International Perspective

Oral clefts and maternal biomarkers of folate‐dependent one‐carbon metabolism in utah

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