A Population Study of the VACTERL Association: Evidence for its Etiologic Heterogeneity

Mj, Khoury; Cordero, José F.; Greenberg, Frank; James, Levy M.; Erickson, J. David

doi:10.1016/s0022-5347(17)50302-x

Cited by 132 publications

(203 citation statements)

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“…This figure compares well with that in other series [ The occurrence of ARM in our patient with Zellweger syndrome maybe fortuitous although one other patient with the Zellweger syndrome had the VACTERL-associa tion [13].…”

Section: Discussionsupporting

confidence: 92%

Additional congenital defects in anorectal malformations

et al. 1996

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Section: Discussionsupporting

confidence: 92%

Additional congenital defects in anorectal malformations

et al. 1996

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“…The spectrum of the different outcome varies from ectopic anus to atresia ani and recti with urogenitale fistula to complex deformations of the cloaca. In humans, anorectal malformations are often associated with syndromes: for example, Hirschsprung disease (Mahboubi and Templeton 1984), VACTERL (Khoury et al 1983), and TownesBrocks (Townes and Brocks 1972) or the Pallister-Hall (Hall et al 1980) syndrome.…”

Section: ÿ7mentioning

confidence: 99%

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

2005

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Anal atresia is a rare and severe disorder in swine occurring with an incidence of 0.1-1.0%. A wholegenome scan based on affected half-sibs was performed to identify susceptibility loci for anal atresia. The analysis included 27 families with a total of 95 animals and 65 affected piglets among them. Animals were genotyped for 126 microsatellite markers distributed across the 18 autosomal porcine chromosomes and the X chromosome, covering an estimated 2080 cM. Single-point and multipoint nonparametric linkage scores were calculated using the computer package ALLEGRO 1.0. Significant linkage results were obtained for chromosomes 1, 3, and 12. Markers on these chromosomes and additionally on chromosomes for which candidate genes have been postulated in previous studies were subjected to the transmission disequilibrium test (TDT). The test statistic exceeded the genomewide significance level for adjacent markers SW1621 (P ¼ 7 3 10 ÿ7 ) and SW1902 (P ¼ 3 3 10 ÿ3 ) on chromosome 1, supporting the results of the linkage analysis. A specific haplotype associated with anal atresia that could prove useful for selection against the disorder was revealed. Suggestive linkage and association were also found for markers S0081 on chromosome 9 and SW957 on chromosome 12.

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“…1 Population-based epidemiological studies have reported a prevalence among infants of 1 in 10 000 to 1 in 40 000 with male predominance. [2][3][4] Since this multisystem malformation complex has been associated with reduced reproduction, it is reasonable to assume that a significant proportion of cases are caused by de novo mutations. In accordance with this, previous studies have identified several de novo chromosomal microaberrations, which are likely to be disease causing.…”

Section: Introductionmentioning

confidence: 99%