Discordant Findings in Extrahepatic Bile Duct Atresia in 6 Sets of Twins

Schweizer, Paul; Kerremans, J.

doi:10.1055/s-2008-1043420

Cited by 16 publications

(8 citation statements)

References 6 publications

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“…These divergent observations make an extrinsic teratogenetic influence as the cause of EHBA fairly improbable. This conclusion is also supported by examinations of twins with EHBA [34].…”

Section: Third Scenariosupporting

confidence: 56%

Pathogenesis of Extrahepatic Bile Duct Atresia (EHBA)

Schweizer

Petersen²,

Drews³

et al. 2005

Eur J Pediatr Surg

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“…These divergent observations make an extrinsic teratogenetic influence as the cause of EHBA fairly improbable. This conclusion is also supported by examinations of twins with EHBA [34].…”

Section: Third Scenariosupporting

confidence: 56%

Pathogenesis of Extrahepatic Bile Duct Atresia (EHBA)

Schweizer

Petersen²,

Drews³

et al. 2005

Eur J Pediatr Surg

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“…Third, although BA is most often sporadic, there are multiple reports of BA occurring in the same families [Whitten and Adie, 1952; Nevin et al, 1969; Cunningham and Sybert, 1988; Lachaux et al, 1988; Smith et al, 1991; Gunasekaran et al, 1992; Anneren et al, 1998], including one report of mother to child transmission of BA [Kobayashi et al, 2008]. The rarity of BA makes twin studies difficult and the lack of zygosity reporting in the majority of twin cases makes interpretation impossible; however, the low concordance overall suggests that BA is not a purely genetic disease [Khaimin, 1969; Morris et al, 1977; Werlin, 1981; Hyams et al, 1985; Strickland et al, 1985; Schweizer and Kerremans, 1988; Hart et al, 1991; Silveira et al, 1991; Smith et al, 1991; Poovorawan et al, 1996]. Nevertheless, these studies do not rule out the possibility of a genetic susceptibility factor.…”

Section: Introductionmentioning

confidence: 99%

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

Leyva–Vega

Gerfen

Thiel

et al. 2010

American J of Med Genetics Pt A

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Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. While the recurrence of BA in families is not common, there are more than 30 multiplex families reported and an underlying genetic susceptibility has been hypothesized. We screened a cohort of 35 BA patients for genomic alterations that might confer susceptibility to BA. DNA was genotyped on the Illumina Quad550 platform, which analyzes over 550,000 single nucleotide polymorphisms (SNPs) for genomic deletions and duplications. Areas of increased and decreased copy number were compared to those found in control populations. In order to identify regions that could serve as susceptibility factors for BA, we searched for regions that were found in BA patients, but not in controls. We identified two unrelated BA patients with overlapping heterozygous deletions of 2q37.3. Patient 1 had a 1.76 Mb (280 SNP), heterozygous deletion containing thirty genes. Patient 2 had a 5.87 Mb (1,346 SNP) heterozygous deletion containing fifty-five genes. The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA.

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“…While EHBA appears to be heterogeneous, reports indicate that the clinical and pathologic manifestations of EHBA are consistent. Suggested causes include infection [Brown et al, 19881, vascular compromise [Schweizer et al, 19881 and genetic factors [Cunningham, 1988;Gould, 1885;Lachaux et al, 19881. Because discordance for EHBA was present in at least 5 sets of MZ twins, four sets of DZ twins, and two sets of twins of unknown zygosity [Hyams, 1985;Schweizer, 1988;Strickland, 19851, Schweizer et al [19881 thought that genetic and infectious causes were less likely and hypothesized that perinatal circulatory compromise of the developing biliary ductal system results in EHBA. An infectious cause has been postulated but never proven for EHBA [Brown et al, 19881.…”

Section: Discussionmentioning

confidence: 99%