Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 173-175

  Horiuchi, Katsumi ^a,b   Ariga, Tadashi ^a   Fujioka, Hirotaka ^a   Kawashima, Kunihiro ^a   Yamamoto, Yuhei ^a   Igawa, Hiroharu ^a   Sakiyama, Yukio ^a   Sugihara, Tsuneki ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SAPPORO CITY GENERAL HOSPITAL   (Japan)

Author keywords

Haploinsufficiency; Treacle

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHOANA ATRESIA; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; HYDROCEPHALUS; MANDIBULOFACIAL DYSOSTOSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TCOF1 GENE;

ARGININE; CHILD, PRESCHOOL; CODON, NONSENSE; CODON, TERMINATOR; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FEMALE; GASTROESOPHAGEAL REFLUX; GENE DELETION; HUMANS; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TOMOGRAPHY, X-RAY COMPUTED;

INSERTION SEQUENCES;

EID: 4444260480     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30038     Document Type: Article

References (9)

1. Edwards SJ, Gladwin AJ, Dixon MJ. 1997. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 60:515-524.
2. Ellis PE, Dawson M, Dixon MJ. 2002. Mutation testing in Treacher Collins syndrome. J Orthod 29:293-298.
3. Gorlin RJ, Cohen MM, Levin LS, Hennekam RCM. 2001. Syndromes of the head and neck, 4th edn. New York: Oxford University Press. pp 799-801.
4. Robb LJ, Fraser FC, Der Kaloustian VM. 1991. Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: Variant or new syndrome? Am J Med Genet 39:119-120.
5. Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. 2000. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 16:315-322.
6. Splendore A, Jabs EW, Passos-Bueno MR. 2002. Screening of TCOF1 in patients from different populations: Confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet 39:493-495.
7. Stovin JJ, Lyon JA, Clemmens RL. 1960. Mandibulofacial dysostosis. Radiology 74:225-231.
8. The Treacher Collins Collaborative Group. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136.
9. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW. 1997. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Nat Acad Sci USA 94:3110-3115.