Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele

Sebold, Courtney; Melvin, Elizabeth C.; Siegel, Deborah G.; Mehltretter, Lorraine; Enterline, David S.; Nye, Jeffrey S.; Kessler, John A.; Bassuk, Alexander G.; Speer, Marcy C.; George, Timothy M.

doi:10.1097/01.gim.0000151158.09278.2b

Cited by 41 publications

(32 citation statements)

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“…despite the fact that NTds do not follow a Mendelian pattern of inheritance, this defects show strong familiar clustering, possibily indicating a genetic etiology. Risk of recurrence in siblings of meningomyelocele patients is about 2-5% 6 . The incidence of NTds among first and second degree relatives is somewhat higher than for non-selected populations.…”

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confidence: 99%

Neurological congenital malformations in a tertiary hospital in south Brazil

Guardiola¹,

Koltermann²,

Aguiar³

et al. 2009

Arq. Neuro-Psiquiatr.

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-Background: Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS) occurs in 21% of cases. Objective: To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto Alegre. Method: Case-control study conducted between 2000 and 2005 based on the Latin American Collaborative Study of Congenital Malformations database. Results: Among 26,588 births registered in this period, 3.67% presented with malformations (IC=95%; 3.44-3.9), being 0.36% of the CNS (IC=95%,(0.29-0.43)). The most common CNS malformation was meningomielocele (10.4%). Young maternal age (p=0.005); low birth weight (p=0.015); large cephalic perimeter (p=0.003); post term birth (p=0.000) and low APGAR indexes at the 1 st and 5 th minutes were associated with CNS malformations. Conclusion: We found an incidence of CNS malformations similar as compared to literature.KeY WoRdS: neurological malformations, neural tube defects, risk factors, congenital malformations. Malformações neurológicas congênitas observadas em hopsital terciário no sul do Brasilresumo -Anomalias congênitas são umas das principais causas de morbimortalidade infantil. o sistema nervoso central (SNC) é acometido em 21% dos casos. Objetivo: Identificar a incidência e fatores associados a malformações do SNC em recém nascidos na maternidade de um hospital terciário de Porto Alegre. Método: estudo controle realizado de janeiro de 2000 a dezembro de 2005, baseado no banco de dados do estudo Colaborativo Latino Americano de Malformações Congênitas. Resultados: dos 26.588 nascimentos, 3,67% apresentaram malformação (IC=95%; 3,44-3,9), com 0,36% do SNC (IC=95%, (0,29-0,43)). A malformação do SNC mais comum foi hidrocefalia (10,9%). Menor idade materna (p=0,005); menor peso ao nascimento (p=0,015), maior perímetro cefálico (p=0,003); nascimentos pré-termo (p=0,000) e menores índice APGAR no 1 o e 5 o minutos (p<0,000) apresentaram associação com malformações do SNC. Conclusão: Foi encontrada incidência similar de malformações do SNC comparada à literatura.PALAvRAS-CHAve: malformações neurológicas, defeitos tubo neural, pé torto, fatores de risco.

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confidence: 99%

Neurological congenital malformations in a tertiary hospital in south Brazil

Guardiola¹,

Koltermann²,

Aguiar³

et al. 2009

Arq. Neuro-Psiquiatr.

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“…Because it is a big concern for the families, the recurrence rate of NTD has been studied specifically for MMC, but the literature lacks significant information about LMMC recurrence in families. [14][15][16] Recurrent risk of NTD has been reported in families with NTD subtypes. In an American study, the siblings of patients with LMMC have been affected by MMC, anencephaly, or fatty filum, but no recurrence of LMMC has been observed in this population.…”

Section: Discussionmentioning

confidence: 99%

“…15 Regarding the high prevalence of myelomeningocele (MMC), the risk factors were extensively studied for this anomaly but LMMC, as a distinct entity, has not been evaluated substantially. Because it is a big concern for the families, the recurrence rate of NTD has been studied specifically for MMC, but the literature lacks significant information about LMMC recurrence in families.…”

Section: Discussionmentioning

confidence: 99%

“…9,15 Variants of several genes has been reported in patients with lipomeningocele, LMMC, or spinal lipomas, including MTHFR, CELSR1, and VANGL2. Moreover, a large number of studies have discussed the genes that could be causal in NTDs, including those that are involved in folate pathways, planar cell polarity (PCP) genes, and other probable genes, although the influence of many of them has not been established yet.…”

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confidence: 99%

“…2,15,18 This congenital defect occurs as the result of a detachment between cutaneous ectoderm and the neural tube at approximately the 4th week of gestation. Afterward, the neural tube disposal to paraxial mesoderm may incite its differentiation into adipose tissue, and a fatty mass would be the result of its development.…”

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confidence: 99%

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Identical twins with lumbosacral lipomyelomeningocele

Hanaei

Nejat

Mortazavi

et al. 2015

PED

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Lipomyelomeningocele, a congenital spine defect, is presented as skin-covered lipomatous tissue that attaches to the cord in different ways according to its subtypes. Unlike other types of neural tube defects, the exact cause of this birth defect has not been confirmed yet, but it is proposed to be a multifactorial disease with involvement of both genetic and environmental factors. The authors describe identical twins with lipomyelomeningocele of the same subtype and location without any familial history of similar abnormality. Therefore, the same genetic and/or environmental risk factors could have played a part in their condition.

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Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population

Carter

Pangilinan

Troendle

et al. 2010

American J of Med Genetics Pt A

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Individual studies of the genetics of neural tube defects (NTDs) contain results on a small number of genes in each report. To identify genetic risk factors for NTDs, we evaluated potentially functional single nucleotide polymorphisms (SNPs) that are biologically plausible risk factors for NTDs but that have never been investigated for an association with NTDs, examined SNPs that previously showed no association with NTDs in published studies, and tried to confirm previously reported associations in folate-related and non-folate-related genes. We investigated 64 SNPs in 34 genes for association with spina bifida in up to 558 case-families (520 cases, 507 mothers, 457 fathers) and 994 controls in Ireland. Case-control and mother-control comparisons of genotype frequencies, tests of transmission disequilibrium, and log-linear regression models were used to calculate effect estimates. Spina bifida was associated with over-transmission of the LEPR (leptin receptor) rs1805134 minor C allele (genotype relative risk (GRR): 1.5; 95% confidence interval (CI): 1.0, 2.1; P = 0.0264) and the COMT (catechol-O-methyltransferase) rs737865 major T allele (GRR: 1.4; 95% CI: 1.1, 2.0; P = 0.0206). After correcting for multiple comparisons, these individual test P-values exceeded 0.05. Consistent with previous reports, spina bifida was associated with MTHFR 677C>T, T (Brachyury) rs3127334, LEPR K109R, and PDGFRA promoter haplotype combinations. The associations between LEPR SNPs and spina bifida suggest a possible mechanism for the finding that obesity is a NTD risk factor. The association between a variant in COMT and spina bifida implicates methylation and epigenetics in NTDs.

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Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele

Abstract: , and the NTD Collaborative GroupPurpose: Neural tube defects (NTDs) are a group of widely varying congenital malformations resulting from incomplete or improper fusion of the neural tube during embryonic development.

Cited by 41 publications

References 15 publications

Neurological congenital malformations in a tertiary hospital in south Brazil

Neurological congenital malformations in a tertiary hospital in south Brazil

Identical twins with lumbosacral lipomyelomeningocele

Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population

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