Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism

Congenital Anomalies

Volumn 53, Issue 4, 2013, Pages 166-169

  Sangu, Noriko ^a   Shimosato, Tsuyoshi ^b   Inoda, Hirosato ^b   Shimada, Shino ^a   Shimojima, Keiko ^a   Ando, Tomohiro ^a   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b KYOTO SECOND RED CROSS HOSPITAL   (Japan)

Author keywords

Cherubism; Multilocular cystic lesions; Mutation; SH3BP2; Tankyrase

Indexed keywords

AMINO ACID; BINDING PROTEIN; DNA FRAGMENT; GENOMIC DNA; NUCLEOTIDE; SRC HOMOLOGY 3 BINDING PROTEIN 2; UNCLASSIFIED DRUG; SH3BP2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DNA EXTRACTION; ESCHERICHIA COLI; EXON; FEMALE; FIBROUS DYSPLASIA; GENE MUTATION; GIANT CELL; HETEROZYGOSITY; HUMAN; JAW DISEASE; MANDIBLE CYST; MANDIBLE SWELLING; MICROSCOPY; PANORAMIC RADIOGRAPHY; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SWELLING; AMINO ACID SUBSTITUTION; CHERUBISM; GENE ORDER; GENETICS; HETEROZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SUBSTITUTION; CHERUBISM; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE ORDER; HETEROZYGOTE; HUMANS; MUTATION; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84896964159     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/cga.12013     Document Type: Article

References (17)

1. Beaman FD, Bancroft LW, Peterson JJ etal. 2004. Imaging characteristics of cherubism. AJR Am J Roentgenol 182:1051-1054.
2. Carvalho VM, Perdigao PF, Amaral FR etal. 2009. Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. Oral Dis 15:106-110.
3. Carvalho VM, Perdigao PF, Pimenta FJ etal. 2008. A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. Oral Oncol 44:153-155.
4. Dinckan N, Guven Y, Kayserili H etal. 2012. A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family. Oral Surg Oral Med Oral Pathol Oral Radiol 114:e42-e46.
5. Imai Y, Kanno K, Moriya T etal. 2003. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J 40:632-638.
6. Jones WA. 1933. Familial multilocular cystic disease of the jaws. Am J Cancer 17:946-950.
7. Lee JY, Jung YS, Kim SA etal. 2008. Investigation of the SH3BP2 gene mutation in cherubism. Acta Med Okayama 62:209-212.
8. Levaot N, Voytyuk O, Dimitriou I etal. 2011. Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. Cell 147:1324-1339.
9. Li CY, Yu SF. 2006. A novel mutation in the SH3BP2 gene causes cherubism: case report. BMC Med Genet 7:84.
10. Lietman SA, Kalinchinko N, Deng X etal. 2006. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat 27:717-718.
11. Lo B, Faiyaz-Ul-Haque M, Kennedy S etal. 2003. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet A 121A:37-40.
12. Mangion J, Rahman N, Edkins S etal. 1999. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 65:151-157.
13. Miah SM, Hatani T, Qu X etal. 2004. Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function. Genes Cells 9:993-1004.
14. Papadaki ME, Lietman SA, Levine MA etal. 2012. Cherubism: best clinical practice. Orphanet J Rare Dis 7(Suppl 1):S6.
15. Preda L, Dinca O, Bucur A etal. 2010. Identical mutation in SH3BP2 gene causes clinical phenotypes with different severity in mother and daughter - case report. Mol Syndromol 1:87-90.
16. Tiziani V, Reichenberger E, Buzzo CL etal. 1999. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet 65:158-166.
17. Ueki Y, Tiziani V, Santanna C etal. 2001. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet 28:125-126.