@entity9357 ( @entity9357 , MIM 190350) is a @entity600 characterized by craniofacial and @entity853 and is inherited in an autosomal dominant manner. @entity9357 @entity1 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, @entity572 and @entity851 . We assigned @entity238 to @entity1 chromosome 8q24. It maps proximal of @entity18215 , which is affected in a subgroup of @entity1 with multiple cartilaginous exostoses and deleted in all @entity1 with @entity68633 type II ( @entity68633 II, or @entity9357 , MIM 150230; ref.2-5). We have positionally cloned a gene that spans the chromosomal breakpoint of two @entity1 with @entity9357 and is deleted in five @entity1 with @entity9357 and an interstitial deletion. Northern-blot analyses revealed transcripts of 7 and 10.5 kb. @entity238 has 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 @entity219 -finger motifs, including IKAROS-like and GATA-binding sequences. We identified six different nonsense mutations in ten unrelated @entity1 . Our findings suggest that haploinsufficiency for this putative transcription factor causes @entity9357 .

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

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity68633 :: ('OMIM:190350', 'Disease') :: ['TRPS'] @entity853 :: ('MESH:D009139', 'Disease') :: ['skeletal abnormalities'] @entity219 :: ('MESH:D015032', 'Chemical') :: ['zinc'] @entity9357 :: ('MESH:D015826', 'Disease') :: ['TRPS I', 'Langer-Giedion syndrome', 'Tricho-rhino-phalangeal syndrome type I'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformation syndrome'] @entity18215 :: ('2131', 'Gene') :: ['EXT1'] @entity572 :: ('MESH:D006617', 'Disease') :: ['hip malformations'] @entity238 :: ('7227', 'Gene') :: ['TRPS1']
@entity219 :: (MESH:D015032,Chemical) :: ['zinc']
