Family‐based association study of the MTHFR polymorphism C677T in the bladder‐exstrophy‐epispadias‐complex

Bladder exstrophy‐epispadias complex

“…In both these cases, mother and child were found to be homozygous carriers of the 677T allele. That observation led Reutter et al (2006c) to conduct a family‐based association study of the MTHFR polymorphism in BEEC by applying the transmission/disequilibrium test on 68 parent‐offspring triads and 23 mother‐child pairs. However, no significant deviation from random transmission to children with BEEC was observed.…”

Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology

“…However, the p63 and Δ Np63 ‐null mice do not present with isolated malformations of the BEEC spectrum but with deterioration of skin development and consecutively mesenchymal differentiation, resulting in facial anomalies and defects in limb and tail morphogenesis [Yang et al, 1999]. Previous epidemiological [Shapiro et al, 1984; Anonymous, 1987; James et al, 1999; Boyadjiev et al, 2004; Ludwig et al, 2005] and genetic studies [Messelink et al, 1994; Boyadjiev et al, 2004, 2005; Thauvin‐Robinet et al, 2004; Kosaki et al, 2005; Kajbafzadeh et al, 2006; Reutter et al, 2006a,b,c; Utsch et al, 2006] have suggested a multifactorial mode of inheritance underlying BEEC. The evidence of genetic determinants of BEEC is based on observations of discrepant male to female ratio, occasional multiplex families, and an increased recurrence risk of the affected individuals to have an affected offspring [Shapiro et al, 1984; Boyadjiev et al, 2004].…”

Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study

“…To confirm the association, Reutter et al ., investigated the MTHFR 677CT polymorphism for association with the occurrence of the isolated nonsyndromic BEEC. [ 12 ] They found no significant deviation from random transmission to children with the BEEC. Furthermore, the investigation of subgroups revealed no biased transmission of the MTHFR alleles to either EC or other forms of BEEC.…”

“…It is still unclear whether in vitro fertilization (IVF) increases the risk of BE. In a large cohort of BE patients[ 12 ] it was noticed that 3.6% (8 out of 217 patients) were born by assisted reproductive techniques (IVF or intracytoplasmic sperm injection [ICSI]). There were no IVF or ICSI conceptions in our study group.…”