RGD Reference Report - Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. - Rat Genome Database

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Authors: Momeni, P  Glockner, G  Schmidt, O  Von Holtum, D  Albrecht, B  Gillessen-Kaesbach, G  Hennekam, R  Meinecke, P  Zabel, B  Rosenthal, A  Horsthemke, B  Ludecke, HJ 
Citation: Momeni P, etal., Nat Genet. 2000 Jan;24(1):71-4.
RGD ID: 1599670
Pubmed: PMID:10615131   (View Abstract at PubMed)
DOI: DOI:10.1038/71717   (Journal Full-text)

Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5). We have positionally cloned a gene that spans the chromosomal breakpoint of two patients with TRPS I and is deleted in five patients with TRPS I and an interstitial deletion. Northern-blot analyses revealed transcripts of 7 and 10.5 kb. TRPS1has seven exons and an ORF of 3,843 bp. The predicted protein sequence has two potential nuclear localization signals and an unusual combination of different zinc-finger motifs, including IKAROS-like and GATA-binding sequences. We identified six different nonsense mutations in ten unrelated patients. Our findings suggest that haploinsufficiency for this putative transcription factor causes TRPS I.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
osteochondrodysplasia  IAGP 1599670trichorhinophalangeal syndrome type I and OMIM:190350RGD 
osteochondrodysplasia  ISOTRPS1 (Homo sapiens)1599670; 1599670trichorhinophalangeal syndrome type I and OMIM:190350RGD 

Objects Annotated

Genes (Rattus norvegicus)
Trps1  (transcriptional repressor GATA binding 1)

Genes (Mus musculus)
Trps1  (transcriptional repressor GATA binding 1)

Genes (Homo sapiens)
TRPS1  (transcriptional repressor GATA binding 1)


Additional Information