6533b86efe1ef96bd12cb628
RESEARCH PRODUCT
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.
Jean Michel GuysVincenzo JasonniGiuseppe SalemiTocco TAlessandra BolinoArmando CamaRoberto CusanoManuela PrioloMargherita LeroneGiuseppe MartuccielloMarco SeriLaura PaleariPaola ForaboscoMichele TorreFrancesco CaroliGiovanni Romeosubject
MaleMesodermCandidate geneSacrumAnal CanalPathogenesisGenetic linkageGeneticsmedicineHumansHedgehog ProteinsSonic hedgehogGenetics (clinical)Embryonic InductionbiologyRectumProteinsAnatomySyndromeSacrummedicine.diseaseSonic Hedgehog GenePedigreemedicine.anatomical_structureSettore MED/03 - Genetica Medicabiology.proteinTrans-ActivatorsSettore MED/26 - NeurologiaFemaleDigestive System AbnormalitiesCurrarino syndromeChromosomes Human Pair 7description
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large family with recurrence of CS. In addition. the screening of SHH in 7 CS and in 15 sporadic ARM patients with sacral hypodevelopment allowed us to exclude its role in the pathogenesis of these disorders.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1999-01-01 | Human genetics |