HLXB9 homeobox gene and caudal regression syndrome

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 76, Issue 3, 2006, Pages 205-209

  Merello, Elisa ^a   De Marco, Patrizia ^a   Mascelli, Samantha ^a   Raso, Alessandro ^a   Calevo, Maria Grazia ^a   Torre, Michele ^a   Cama, Armando ^a   Lerone, Margherita ^a   Martucciello, Giuseppe ^b,c   Capra, Valeria ^a  

^a G GASLINI INSTITUTE   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

Anorectal malformations (ARMS); Caudal regression syndrome (CRS); GCC repeat; Hlxb9; Homeobox gene; Mutational analysis

Indexed keywords

TRINUCLEOTIDE;

ADOLESCENT; ADULT; ANORECTAL MALFORMATION; ARTICLE; CASE CONTROL STUDY; CAUDAL REGRESSION SYNDROME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CURRARINO SYNDROME; EXON; FEMALE; GCC TRIPLET; GENE; GENE FREQUENCY; HEMISACRUM; HLXB9 GENE; HOMEOBOX; HUMAN; LUNG HYPOPLASIA; MALE; MENINGOCELE; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESACRAL TUMOR; PRIORITY JOURNAL; RECTUM DUPLICATION; SACRUM; SACRUM AGENESIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINE MALFORMATION; SPINE TUMOR; TERATOMA; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; ITALY; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SACRUM; SYNDROME; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEATS;

EID: 33645522308     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20234     Document Type: Article

References (17)

1. Akarsu AN, Stoilov I, Yilmaz E, et al. 1996. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 5:945-952.
2. Belloni E, Martucciello G, Verderio D, et al. 2000. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66:312-319.
3. Brais B, Bouchard J-P, Xie X-G, et al. 1998. Short GCG expansion in the PABP2 gene causes oculopharyngeal muscular dystrophy. Nat Genet 18:164-167.
4. Cama A, Palmieri A, Capra V, et al. 1996. Multidisciplinary management of caudal regression syndrome (26 cases). Eur J Pediatr Surg 6(Suppl 1):44-45.
5. Duhamel B. 1961. From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 36:152-155.
6. Goodman FR, Mundlos S, Muragaki Y, et al. 1997. Synpolydactyly phenotypes correlate with size of expansion in HOXD13 poly-alanine tract. Proc Natl Acad Sci U S A 94:7458-7463.
7. Hagan DM, Ross AJ, Strachan T, et al. 2000. Mutational analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet 66:1504-1515.
8. Harrison KA, Druey KM, Deguchi Y, et al. 1994. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. J Biol Chem 269:19968-19975.
9. Izpisua-Belmonte JC, Dolle P, Renucci A, et al. 1990. Primary structure and embryonic expression pattern of the mouse Hox-4.3 homeobox gene. Development (Cambridge, UK) 110:733-745.
10. Kallen B, Winberg I. 1974. Caudal mesoderm pattern of anomalies: from renal agenesis to sirenomielia. Teratology 9:99-112.
11. Lynch SA, Bond PH, Copp AJ, et al. 1995. A gene for autosomed dominant sacral agenesis maps to the holoprosercephaly region at 7936. Nat Genet 11:93-5.
12. Lynch SA, Wang Y, Strachan T, et al. 2000. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37:561-567.
13. Mundlos S, Otto F, Mundlos C, et al. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779.
14. Pang D. 1993. Sacral agenesis and caudal spinal cord malformations. Neurosurgery 32:755-779.
15. Passarge E, Lenz W. 1966. Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics 37:672-675.
16. Ross AJ, Ruiz-Perez V, Wang Y, et al. 1998. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20: 358-361.
17. Tortori-Donati P, Rossi A, Biancheri R, Cama A. 2005. Congenital malformation of the spine and the spinal cord. In: Tortori-Donati P, editor. Pediatric neuroradiology head, neck and spine. New York: Springer. pp. 1551-1608.