Manuel Mattheisen

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • Heiko Reutter
  • ,
  • Franz Rüschendorf
  • ,
  • Manuel Mattheisen
  • Markus Draaken
  • ,
  • Enrika Bartels
  • ,
  • Norbert Hübner
  • ,
  • Per Hoffmann
  • ,
  • Seyedmedhi Payabvash
  • ,
  • Kathrin Saar
  • ,
  • Markus M Nöthen
  • ,
  • Abdol-Mohammad Kajbafzadeh
  • ,
  • Michael Ludwig
The bladder exstrophy-epispadias complex (BEEC) is a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and, occasionally, the spine and anus. Although BEEC typically occurs sporadically, families with two or more affected members have been reported. The present authors previously conducted a genome-wide linkage analysis in two multiply affected (multiplex) families (one of German and one of Spanish origin), which revealed several chromosomal regions compatible with linkage. In the present study, genome-wide linkage analysis was performed in a recently reported consanguineous Iranian multiplex family with an affected sibling pair: a female with epispadias and a male with classic exstrophy of the bladder.
Original languageEnglish
JournalBirth Defects Research. Part A: Clinical and Molecular Teratology
Volume88
Issue9
Pages (from-to)757-61
Number of pages5
ISSN1542-0752
DOIs
Publication statusPublished - Sep 2010
Externally publishedYes

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