Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey

Amorim, Márcia Rodrigues

doi:10.1136/bmj.37945.610914.ee

Cited by 20 publications

(9 citation statements)

References 17 publications

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“…Regarding our other two families a link between trisomy 21 and NTDs was posited [Barkai et al, 2003] from epidemiological evidence of a coexistence of the two conditions in the same family; however, other authors do not confirm this [Amorim et al, 2004].…”

mentioning

confidence: 68%

Multiple aneuploidy recurrence risk

Bianca¹,

Ingegnosi²,

Cataliotti³

et al. 2006

American J of Med Genetics Pt A

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mentioning

confidence: 68%

Multiple aneuploidy recurrence risk

Bianca¹,

Ingegnosi²,

Cataliotti³

et al. 2006

American J of Med Genetics Pt A

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“…However, Olsen and Winther (2003) pointed out the potential for bias in ascertainment in a hospital‐based series. Amorim et al (2004) could not find evidence for an association in a large Latin American collaborative study of congenital malformations. In our community‐based series of families, although two cases of Down syndrome occurred among mother's relatives, the overall rate of Down syndrome was not significantly higher than expected.…”

Section: Discussionmentioning

confidence: 94%

Birth defects in uncles and aunts from Irish families with neural tube defects

Byrne

2007

Birth Defects Research

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This study of reported birth defects suggests that maternal uncles and aunts in Irish families have significantly more birth defects than paternal uncles and aunts. These results, if confirmed, support the hypothesis that NTD relatives carry a susceptibility to other birth defects, preferentially on the mother's side of the family, suggesting opportunities for prevention. Birth Defects Research (Part A) 2008.

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“…Källén et al . found no association with anencephaly, spina bifida, cephalocele, or hydrocephalus.in their studies on 5581 cases of Down's syndrome [22]…”

Section: Resultsmentioning

confidence: 99%

Systems biological approach to investigate the lack of familial link between Down’s Syndrome & Neural Tube Disorders

Ragunath

Abhinand²

2013

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Systems Biology involves the study of the interactions of biological systems and ultimately their functions. Down's syndrome (DS) is one of the most common genetic disorders which are caused by complete, or occasionally partial, triplication of chromosome 21, characterized by cognitive and language dysfunction coupled with sensory and neuromotor deficits. Neural Tube Disorders (NTDs) are a group of congenital malformations of the central nervous system and neighboring structures related to defective neural tube closure during the first trimester of pregnancy usually occurring between days 18-29 of gestation. Several studies in the past have provided considerable evidence that abnormal folate and methyl metabolism are associated with onset of DS & NTDs. There is a possible common etiological pathway for both NTDs and Down's syndrome. But, various research studies over the years have indicated very little evidence for familial link between the two disorders. Our research aimed at the gene expression profiling of microarray datasets pertaining to the two disorders to identify genes whose expression levels are significantly altered in these conditions. The genes which were 1.5 fold unregulated and having a p-value <0.05 were filtered out and gene interaction network were constructed for both NTDs and DS. The top ranked dense clique for both the disorders were recognized and over representation analysis was carried out for each of the constituent genes. The comprehensive manual analysis of these genes yields a hypothetical understanding of the lack of familial link between DS and NTDs. There were no genes involved with folic acid present in the dense cliques. Only – CBL, EGFR genes were commonly present, which makes the allelic variants of these genes – good candidates for future studies regarding the familial link between DS and NTDs.AbbreviationsNTD - Neural Tube Disorders, DS - Down's Syndrome, MTHFR - Methylenetetrahydrofolate reductase, MTRR– 5 - methyltetrahydrofolate-homocysteine methyltransferase reductase.

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Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey

Abstract: Objective To verify whether Down's syndrome and neural tube defects arise more often in the same family than expected by chance. Design Population and familial survey. Setting Network of maternity hospitals in the Latin American collaborative study of congenital malformations (ECLAMC)

Cited by 20 publications

References 17 publications

Multiple aneuploidy recurrence risk

Multiple aneuploidy recurrence risk

Birth defects in uncles and aunts from Irish families with neural tube defects

Systems biological approach to investigate the lack of familial link between Down’s Syndrome & Neural Tube Disorders

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