{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:10Z","timestamp":1761718150604},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,7,29]],"date-time":"2010-07-29T00:00:00Z","timestamp":1280361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND:<\/jats:title><jats:p>The bladder exstrophy\u2010epispadias 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\u2010wide 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\u2010wide 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS:<\/jats:title><jats:p>The Affymetrix 250K <jats:italic>Sty<\/jats:italic> chip (238,304 single nucleotide polymorphisms) was used to genotype the parents and four children, including the two affected siblings. Parametric and nonparametric linkage analyses were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS:<\/jats:title><jats:p>Parametric linkage analysis under a recessive model with complete penetrance identified seven loci with LOD scores &gt;1.6 (1p33, 4q31.21\u201022, 9q22.33, 12q13.13\u20102, 13q12.12\u201013, 18q23, and 19q13.31\u201041). These results were supported by nonparametric linkage analysis. Haplotype analysis showed that the affected individuals were homozygous identical by descent for all seven regions. Two of these regions overlapped with regions observed previously in the Spanish family \u2014one on chromosome 4q31.21\u201022, and the other on chromosome 19q13.31\u201041.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION:<\/jats:title><jats:p>These results suggest that chromosomal regions 4q31.21\u201022 and 19q13.31\u201041 are likely to harbor genes for an autosomal recessive form of BEEC. Birth Defects Research (Part A), 2010. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20701","type":"journal-article","created":{"date-parts":[[2010,7,29]],"date-time":"2010-07-29T14:47:00Z","timestamp":1280414820000},"page":"757-761","source":"Crossref","is-referenced-by-count":6,"title":["Evidence for linkage of the bladder exstrophy\u2010epispadias complex on chromosome 4q31.21\u201022 and 19q13.31\u201041 from a consanguineous iranian 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