A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III

British Journal of Dermatology

Volumn 159, Issue 2, 2008, Pages 476-478

  Tariq, M ^a   Ahmad, S ^a   Ahmad, W ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Missense nutation; Trichorhinophalangeal syndrome type III; TRPS1 gene

Indexed keywords

TRANSCRIPTION FACTOR; TRPS1 PROTEIN;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE AGE; BONE MALFORMATION; BRACHYDACTYLY; DEVELOPMENTAL DISORDER; EXON; EYELASH; FACE MALFORMATION; FINGER MALFORMATION; FINGER NAIL; FOREHEAD; HAIR DISEASE; HAIR GROWTH; HIP MALFORMATION; HUMAN; HYPOPIGMENTATION; INTELLIGENCE; MALE; MALOCCLUSION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; PHILTRUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCALP HAIR; SHORT STATURE; SPEECH DISORDER; SYNDROME; TOE; TRICHORHINOPHALANGEAL SYNDROME TYPE III;

ADOLESCENT; BASE SEQUENCE; DNA-BINDING PROTEINS; FEMALE; HUMANS; LANGER-GIEDION SYNDROME; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 47549097150     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08658.x     Document Type: Article

References (10)

1. Momeni P, Glockner G, Schmidt O et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 2000 24 : 71 4.
2. Lüdecke HJ, Schaper J, Meinecke P et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2001 68 : 81 91.
3. Hilton MJ, Sawyer JM, Gutiérrez L et al. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet 2002 47 : 103 6.
4. Rossi A, Devirgiliis V, Panasiti V et al. Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. Br J Dermatol 2007 157 : 1021 4.
5. Gonzalez-Huerta LM, Cuevas-Covarrubias SA, Messina-Baas OM. Tricho-rhino-phalangeal type I syndrome and mental retardation: identification of a novel mutation in the TRPS1 gene. J Dermatol Sci 2007 48 : 61 3.
6. Gentile M, Fiorente P, Buonadonna AL et al. A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I. Clin Genet 2003 63 : 166 7.
7. Kaiser FJ, Brega P, Raff ML et al. Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. Eur J Hum Genet 2004 12 : 121 6.
8. Buhler EM, Buhler UK, Beutler C, Fessler R. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet 1987 31 : 273 5.
9. Malik TH, Shoichet SA, Latham P et al. Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1. EMBO J 2001 20 : 1715 25.
10. Merika M, Orkin SH. DNA-binding specificity of GATA family transcription factors. Mol Cell Biol 1993 13 : 3999 4010.