Spectrum of mutations and genotype - Phenotype analysis in Currarino syndrome

European Journal of Human Genetics

Volumn 9, Issue 8, 2001, Pages 599-605

  Köchling, Joachim ^a   Karbasiyan, Mohsen ^a   Reis, André ^a,b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Currarino syndrome; DNA binding specificity; Genotype phenotype correlation; HLXB9 mutations; Mutational predilection sites; NLS motif

Indexed keywords

HB9 PROTEIN; HLXB9 PROTEIN; HOMEODOMAIN PROTEIN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR PDX 1; UNCLASSIFIED DRUG;

ANORECTAL MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; CORRELATION FUNCTION; CURRARINO SYNDROME; DNA BINDING; EMBRYO PATTERN FORMATION; EXON; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE MALFORMATION SYNDROME; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; SACRUM; SACRUM AGENESIS; SEQUENCE HOMOLOGY; SYMPTOMATOLOGY; TUMOR;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANAL CANAL; DNA MUTATIONAL ANALYSIS; DROSOPHILA PROTEINS; FEMALE; GENOTYPE; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RECTUM; SACRUM; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0034886738     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200683     Document Type: Article

References (22)

1. Triad of anorectal, sacral, and presacral anomalies
2. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
3. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
4. Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila
5. Interspecies exchange of a Hoxd enhancer in vivo induces premature transcription and anterior shift of the sacrum
6. Mutation analysis and embryonic expression of the HLXB9 currarino syndrome gene
7. Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
8. Autosomal dominant sacral agenesis: Currarino syndrome
9. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p
10. Structural complexity and evolutionary conservation of the Drosophila homeotic gene proboscipedia
11. The sequence specificity of homeodomain-DNA interaction
12. A single amino acid can determine the DNA binding specificity of homeodomain proteins
13. Homeodomain proteins
14. Exploring the role of glutamine 50 in the homeodomain-DNA interface: Crystal structure of engrailed (Gln50→ala) complex at 2.0 A
15. Identification of a nuclear localization signal, RRMKWKK, in the homeodomain transcription factor PDX-1
16. Involvement of the HLXB9 homeobox gene in Currarino Syndrome
17. The nuclear localization signal (NLS) of PDX-1 is part of the homeodomain and represents a novel type of NLS
18. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
19. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
20. Functional domains of the Drosophila Engrailed protein
21. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
22. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy