A forkhead-domain gene is mutated in a severe speech and language disorder

Nature

Volumn 413, Issue 6855, 2001, Pages 519-523

  Lai, Cecilia S L ^a,b   Fisher, Simon E ^a,b   Hurst, Jane A ^d   Vargha Khadem, Faraneh ^c   Monaco, Anthony P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; GENES; HANDICAPPED PERSONS; NEUROLOGY;

DEVELOPMENTAL DISORDERS;

MUTAGENESIS;

DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

GENE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; CHROMOSOME 7Q; CHROMOSOME TRANSLOCATION 7; DISEASE SEVERITY; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; LANGUAGE; LANGUAGE DEVELOPMENT; LANGUAGE DISABILITY; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; SPEECH DEVELOPMENT; SPEECH DISORDER; TWINS;

AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; LANGUAGE DISORDERS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SPEECH DISORDERS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 0035807360     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35097076     Document Type: Article

References (30)

1. Genetic basis for specific language impairment: Evidence from a twin study
2. Heritability of poor language achievement among twins
3. Genetic influence on language delay in two-year-old children
4. An extended family with a dominantly inherited speech disorder
5. Localization of a gene implicated in a severe speech and language disorder
6. The SPCH1 region on human 7q31: Genomic characterization of the critical interval and localization of translocations associated with speech and language disorder
7. Familial aggregation of a developmental language disorder
8. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder
9. Neural basis of an inherited speech and language disorder
10. cDNAs with long CAG trinucleotide repeats from human brain
11. Hepatocyte nuclear factor 3/fork head or "winged helix" proteins: A family of transcription factors of diverse biologic function
12. DNA-binding properties and secondary structural model of the hepatocyte nuclear factor 3/fork head domain
13. Five years on the wings of fork head
14. Unified nomenclature for the winged helix/forkhead transcription factors
15. Characterization of a new subfamily of winged-helix/forkhead (fox) genes that are expressed in the lung and act as transcriptional repressors
16. Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5
17. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
18. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
19. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
20. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
21. The putative forkhead transcription factor FOXL2 is mutated in blepharophirnosis/ptosis/epicanthus inversus syndrome
22. Mutations in the human forkhead transcription factor FOXE 3 associated with anterior segment ocular dysgenesis and cataracts
23. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
24. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
25. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
26. A mouse model for hereditary thyroid dysgenesis and cleft palate
27. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
28. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
29. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
30. Fourteen and counting: Unraveling trinucleotide repeat diseases