Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures

American Journal of Human Genetics

Volumn 69, Issue 6, 2001, Pages 1370-1377

  Amiel, Jeanne ^a   Espinosa Parrilla, Yolanda ^a   Steffann, Julie ^a   Gosset, Philippe ^a   Pelet, Anna ^a   Prieur, Marguerite ^a   Boute, Odile ^b   Choiset, Agnès ^c   Lacombe, Didier ^d   Philip, Nicole ^a   Le Merrer, Martine ^a   Tanaka, Hajime ^e   Till, Marianne ^f   Touraine, Renaud ^g   Toutain, Annick ^h   Vekemans, Michel ^a   Munnich, Arnold ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d HÔPITAL PELLEGRIN   (France)

^e Asahikawa Habilitation Center for Disabled Children   (Japan)

^f Lab de Biochimie Pédiatrique   (United States)

^g HÔPITAL NORD   (France)

^h CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN SMADIP1; SMAD PROTEIN; UNCLASSIFIED DRUG;

AGENESIS; ARTICLE; CHROMOSOME 2Q; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS CALLOSUM; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HIRSCHSPRUNG DISEASE; HUMAN; HYPOSPADIAS; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; NEURAL CREST; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0035213144     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324342     Document Type: Article

References (12)

1. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
2. XSIP1, a member of two-handed zinc finger proteins, induced anterior neural markers in Xenopus laevis animal cap
3. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration
4. An optimized set of human telomere clones for studying telomere integrity and architecture
5. Phenotypic variability of del(2) (q22-q23): Report of a case with a review of the literature
6. Hirschsprung disease
7. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
8. Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)
9. New mode of DNA binding of multi-zinc finger transcription factors: δEF1 family members bind with two hands to two target sites
10. Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome
11. SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5′-CACCT sequences in candidate target genes
12. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease