Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation

Clinical Dysmorphology

Volumn 19, Issue 2, 2010, Pages 98-100

  Al Dosari, Mohammed S ^a,c   Alkuraya, Fowzan S ^b,c,d  

^a Department of Pharmacognosy   (India)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BONE EXAMINATION; BRACHYDACTYLY; CASE REPORT; CHILD; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HAIR DISEASE; HUMAN; NOSE DISEASE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; TRICHORHINOPHALANGEAL SYNDROME; TRPS1 GENE;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY; FEMALE; HUMANS; LANGER-GIEDION SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; TRANSCRIPTION FACTORS;

EID: 77949387538     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283379ae6     Document Type: Article

References (7)

1. Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V (1973). Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta 28:249-259
2. Hou J, Parrish J, Ludecke HJ, Sapru M, Wang Y, Chen W, et al. (1995). A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 29:87-97
3. Ludecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, et al. (2001). Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 68:81-91
4. Malik TH, Von Stechow D, Bronson RT, Shivdasani RA (2002). Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes. Mol Cell Biol 22:8592-8600
5. Momeni P, Glockner G, Schmidt O, Von Holtum D, Albrecht B, Gillessen-Kaesbach G, et al. (2000). Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 24:71-74
6. Stickens D, Brown D, Evans GA (2000). EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Dev Dyn 218:452-464
7. Suemoto H, Muragaki Y, Nishioka K, Sato M, Ooshima A, Itoh S, et al. (2007). Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling. Dev Biol 312:572-581