Börjeson-forssman-lehmann syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

Journal of Child Neurology

Volumn 24, Issue 5, 2009, Pages 610-614

  Mangelsdorf, Marie ^a   Chevrier, Evelyne ^a   Mustonen, Aki ^c   Picketts, David J ^a,b  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

B rjeson Forssman Lehmann syndrome; Chromatin remodeling; PHF6; Plant homeodomain zinc finger; X linked mental retardation

Indexed keywords

GLYCINE; THREONINE; VALINE; ZINC FINGER PROTEIN;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BORJESON FORSSMAN LEHMANN SYNDROME; CASE REPORT; CHROMATIN ASSEMBLY AND DISASSEMBLY; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GYNECOMASTIA; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBESITY; PALPEBRAL FISSURE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; SYNDACTYLY; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SYNDROME; YOUNG ADULT; ZINC FINGERS;

EID: 65549094172     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808327830     Document Type: Article

References (21)

1. Crawford J., Lower KM, Hennekam RC, et al. Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient. J Med Genet. 2006;43:238-243.
2. Gecz J., Turner G., Nelson J., Partington M. The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). Eur J Hum Genet. 2006;14:1233-1237.
3. Lower KM, Turner G., Kerr BA, et al. Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nat Genet. 2002;32:661-665.
4. Turner G., Lower KM, White SM, et al. The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet. 2004;65:226-232.
5. Vallee D., Chevrier E., Graham GE, et al. A novel PHF6 mutation results in enhanced exon skipping and mild Borjeson-Forssman-Lehmann syndrome. J Med Genet. 2004;41:778-783.
6. Visootsak J., Rosner B., Dykens E., et al. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. J Pediatr. 2004;145:819-825.
7. Gedeon AK, Kozman HM, Robinson H., et al. Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann Syndrome. Am J Med Genet. 1996;64:63-68.
8. Baumstark A., Lower KM, Sinkus A., et al. Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome. J Med Genet. 2003; 40: E50.
9. Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002;12:436-446.
10. Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: Server and survey. Nucleic Acids Res. 2002;30:3894-3900.
11. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812-3814.
12. Milchevsky JV, Ramensky VE, Esipova NG, Tumanyan VG, Zorov BS Molecular modelling of disease-causing single-nucleotide polymorphisms in collagen. SAR QSAR Environ Res. 2001;12:383-399.
13. Voss AK, Gamble R., Collin C., et al. Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. Gene Expr Patterns. 2007;7:858-871.
14. Aasland R., Gibson TJ, Stewart AF The PHD finger: Implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci. 1995;20:56-59.
15. Bienz M. The PHD finger, a nuclear protein-interaction domain. Trends Biochem Sci. 2006;31:35-40.
16. Wysocka J., Swigut T., Xiao H., et al. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. Nature. 2006;442:86-90.
17. Li H., Ilin S., Wang W., et al. Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF. Nature. 2006;442:91-95.
18. Shi X., Hong T., Walter KL, et al. ING2 PHD domain links histone H3 lysine 4 methylation to active gene repression. Nature. 2006;442:96-99.
19. Gibbons RJ, Bachoo S., Picketts DJ, et al. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet. 1997;17:146-148.
20. Gibbons RJ, Wada T., Fisher CA, et al. Mutations in the chromatin-associated protein ATRX. Hum Mutat. 2008;29:796-802.
21. Argentaro A., Yang JC, Chapman L., et al. Structural consequences of disease-causing mutations in the ATRX-DNMT3DNMT3L (ADD) domain of the chromatin-associated protein ATRX. Proc Natl Acad Sci U S A. 2007;104:11939-11944.11939 - 11944.