A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1

Journal of Dermatology

Volumn 41, Issue 6, 2014, Pages 514-517

  Fujisawa, Tomomi ^a   Fukao, Toshiyuki ^a   Shimomura, Yutaka ^b   Seishima, Mariko ^a  

^a GIFU UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

Author keywords

brachytelephalangia; sparse scalp hair; STAT3; tricho rhino phalangeal syndrome type 1; TRPS1 mutation

Indexed keywords

STAT3 PROTEIN; TRANSCRIPTION FACTOR; TRPS1 PROTEIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; TRPS1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYTELEPHALANGY; CASE REPORT; CHILD; CLINICAL FEATURE; EPIPHYSIS; FEMALE; FINGER MALFORMATION; FINGER PHALANX; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HAIR DISEASE; HAIR FOLLICLE; HAIR GROWTH; HAIR LOSS; HISTOLOGY; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MALOCCLUSION; MICROGNATHIA; PRESCHOOL CHILD; PROMINENT EAR; PROTEIN EXPRESSION; SCALP HAIR; SKIN; SKIN MALFORMATION; TOE MALFORMATION; TOE PHALANX; TRICHORHINOPHALANGEAL SYNDROME TYPE 1; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; FINGER; GENE DELETION; GENETICS; HAIR; NOSE; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FINGERS; HAIR; HAIR DISEASES; HUMANS; LANGER-GIEDION SYNDROME; MALE; NOSE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84902135337     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.12511     Document Type: Article

References (10)

1. 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.
2. Giedion A,. Tricho-rhino-phalangeal syndrome. Helv Paediatr Acta 1996; 21: 475-485.
3. Langer LO Jr, Krassikoff N, Laxova R, et al,. The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Am J Med Genet 1984; 19: 81-112.
4. Niikawa N, Kamei T,. The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. Am J Med Genet 1986; 24: 759-760.
5. Sugio Y, Kajii T,. Ruvalcaba syndrome: autosomal dominant inheritance. Am J Med Genet 1984; 19: 741-753.
6. Farooq M, Fujikawa H, Fujimoto A, Kubo Y, Ito M, Shimomura Y,. A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I. Int J Dermatol 2013. doi: 10.1111/j.1365-4632.2012.05694.x (in press).
7. Momeni P, Glöckner 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: 71-74.
8. Suemoto H, Muragaki Y, Nishioka K, et al,. Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling. Dev Biol 2007; 312: 572-581.
9. Napierala D, Sam K, Morello R, et al,. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet 2008; 17: 2244-2254.
10. Ito T, Shimomura Y, Farooq M, Suzuki N, Sakabe J, Tokura Y,. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. J Dermatol 2013; 40: 396-398.