Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

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...

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Bibliographic Details
Published in:Human genetics 1999-01, Vol.104 (1), p.108-110
Main Authors: SERI, M, MARTUCCIELLO, G, LERONE, M, CAMA, A, TORRE, M, GUYS, J. M, ROMEO, G, JASONNI, V, PALEARI, L, BOLINO, A, PRIOLO, M, SALEMI, G, FORABOSCO, P, CAROLI, F, CUSANO, R, TOCCO, T
Format: Article
Language:English
Subjects:
Anal Canal - abnormalities
Biological and medical sciences
Chromosomes, Human, Pair 7 - genetics
Digestive System Abnormalities - genetics
Diseases of the osteoarticular system
Embryonic Induction - genetics
Female
Hedgehog Proteins
Humans
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Pedigree
Proteins - genetics
Rectum - abnormalities
Sacrum - abnormalities
Syndrome
Trans-Activators
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050919