TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

Clinical Dysmorphology

Volumn 21, Issue 2, 2012, Pages 87-90

  Sidler, Jan A ^a   Filges, Isabel ^a   Boesch, Nemya ^a   Ramelli, Gian Paolo ^c   Röthlisberger, Benno ^d   Huber, Andreas R ^d   Tercanli, Sevgi ^b   Bronz, Lucio ^c   Miny, Peter ^a   Heinimann, Karl ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c Mendrisio and Bellinzona Hospitals ^*  (Switzerland)

^d CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; TRICHORHINOPHALANGEAL SYNDROME; TRICHORHINOPHALANGEAL SYNDROME 1 GENE;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON; DNA-BINDING PROTEINS; FACIES; FEMALE; FINGERS; GENE ORDER; HAIR DISEASES; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; LANGER-GIEDION SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NOSE; TRANSCRIPTION FACTORS;

EID: 84858292508     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834e9248     Document Type: Article

References (5)

1. Fernandez JM, Santolaya JM, Sadaba F, Areitio E, Alvaro LC, Cortina C (1993). Basilar impression and syringomyelia in a patient with tricho-rhino-phalangeal syndrome type I. Clin Genet 43:324-325. (Pubitemid 23217163)
2. Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, et al. (2004). Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. Eur J Hum Genet 12:121-126. (Pubitemid 38263556)
3. Martinez-Lage JF, Ruiz-Espejo A, Guillen-Navarro E, Almagro MJ (2008). Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. J Neurosurg 109:746-750.
4. 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. (Pubitemid 30041424)
5. Rossi A, Devirgillis V, Panasiti V, Borroni RG, Carlesimo M, Gentile M, et al. (2007). Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. Br J Dermatol 157:1021-1024. (Pubitemid 47583508)