Involvement of the HLXB9 homeobox gene in currarino syndrome
. Am J Hum Genet 2000;66(1):312-9.
Autosomal dominant sacral agenesis: Currarino syndrome
. J Med Genet 2000; 37: 561-6.
The Currarino syndrome is a triad of anomalies consisting of an ARM, sacral defect, and presacral mass.
Table 1: Summary of Currarino Syndrome Etiology Hereditary disorder caused by a mutation in the coding sequence of HLXB9, localized to chromosome 7q36.
The true incidence of Currarino syndrome is difficult to determine due to high proportion of clinically asymptomatic patients and variability of phenotypic expression.
Currarino syndrome is caused by abnormality in the canalization and retrogressive differentiation of caudal cell mass formed by secondary neurulation [12,13].
In humans, the Currarino syndrome
(a sacral agenesis caused by mutations in the homeobox-containing gene HLXB9) is associated with congenital caudal anomalies.
: Proposal of a diagnostic and therapeutic protocol.
HLXB9 and sacral agenesis and the Currarino syndrome
. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds.
Causes of meningocele include teratoma and other tumors of the sacrococcyx and of the pre sacral space and Currarino syndrome
. The most common location of the malformations is the lumbar and sacral areas.
Epidermoid Cyst Inside Anterior Sacral Meningocele in an Adult Patient of Currarino Syndrome
Manifesting with Meningitis, Turkish Neurosurgery 2012, Vol: 22, No: 5, 659-661 Turkish Neurosurgery 2012, Vol: 22, No: 5, 659-661.
In humans, a genetic etiology for congenital caudal anomalies has only been confirmed for the Currarino syndrome
, a sacral agenesis caused by mutations in the homeobox-containing gene HLXB9 (1).