Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Autore:
Afzal, AR; Rajab, A; Fenske, CD; Oldridge, M; Elanko, N; Ternes-Pereira, E; Tuysuz, B; Murday, VA; Patton, MA; Wilkie, AOM; Jeffery, S;
Indirizzi:
Univ London St Georges Hosp, Sch Med, Med Genet Unit, London, England UnivLondon St Georges Hosp London England Genet Unit, London, England Minist Hlth, DGHA, Med Genet Unit, Muscat, Oman Minist Hlth Muscat OmanMinist Hlth, DGHA, Med Genet Unit, Muscat, Oman John Radcliffe Hosp, Inst Mol Med, Oxford, England John Radcliffe Hosp Oxford England Hosp, Inst Mol Med, Oxford, England Univ Fed Santa Catarina, Dept Clin Med, Florianopolis, SC, Brazil Univ FedSanta Catarina Florianopolis SC Brazil lorianopolis, SC, Brazil Univ Istanbul, Cerrahpasa Med Fac, Dept Paediat, Istanbul, Turkey Univ Istanbul Istanbul Turkey a Med Fac, Dept Paediat, Istanbul, Turkey
Titolo Testata:
NATURE GENETICS
fascicolo: 4, volume: 25, anno: 2000,
pagine: 419 - 422
SICI:
1061-4036(200008)25:4<419:RRSATD>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-LINKED AGAMMAGLOBULINEMIA; FETAL FACE SYNDROME; LIGNEOUS CONJUNCTIVITIS; PLASMINOGEN GENE; TYROSINE; DISEASE; DISRUPTION; FAMILY; DOMAIN; CDMP1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Jeffery, S Univ London St Georges Hosp, Sch Med, Med Genet Unit, London, England Univ London St Georges Hosp London England , London, England
Citazione:
A.R. Afzal et al., "Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2", NAT GENET, 25(4), 2000, pp. 419-422

Abstract

The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance(1-3). We previously mapped the gene mutated in RRS to chromosome 9q22 (ref. 4), aregion that overlaps the locus for autosomal dominant brachydactyly type B(refs 5,6). The recent identification of ROR2, encoding an orphan receptortyrosine kinase, as the gene mutated in brachydactyly type B (BDB1; ref. 7) and the mesomelic dwarfing in mice homozygous for a lacZ and/or a neo insertion into Ror2 (refs 8.9) made this gene a candidate for RRS. Here we report homozygous missense mutations in both intracellular and extracellular domains of ROR2 in affected individuals from 3 unrelated consanguineous families, and a nonsense mutation that removes the tyrosine kinase domain and all subsequent 3' regions of the gene in 14 patients from 7 families from Oman. The nature of these mutations suggests that RRS is caused by loss of ROR2 activity. The identification of mutations in three distinct domains (containing Frizzled-like, kringle and tyrosine kinase motifs) indicates that these are all essential for ROR2 function.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 00:19:58