Three new BLM gene mutations associated with Bloom syndrome

Genetic Testing

Volumn 12, Issue 2, 2008, Pages 257-261

  Amor Guéret, Mounira ^a,b   Dubois D'Enghien, Catherine ^a   Laugé, Anthony ^a   Onclercq Delic, Rosine ^a,b   Barakat, Abdelhamid ^c   Chadli, Elbekkay ^c   Bousfiha, Ahmed Aziz ^d   Benjelloun, Meriem ^d   Flori, Elisabeth ^e   Doray, Bérénice ^e   Laugel, Vincent ^e   Lourenço, Maria Teresa ^f   Gonçalves, Rui ^f   Sousa, Silvia ^g   Couturier, Jérôme ^a,h   Stoppa Lyonnet, Dominique ^a,h  

^a INSTITUT CURIE   (France)

^b CNRS   (France)

^c Institut Pasteur du Maroc   (Morocco)

^d IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f HOSPITAL DONA ESTEFÂNIA   (Portugal)

^g HOSPITAL EGAS MONIZ   (Portugal)

^h INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOM SYNDROME; CASE REPORT; CHILD; CONTROLLED STUDY; CYTOGENETICS; DIAGNOSTIC TEST; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC SCREENING; HUMAN; MALE; METHODOLOGY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCRIPTION; QUESTIONNAIRE; SEQUENCE ANALYSIS;

ADULT; BLOOM SYNDROME; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; GENOME; HUMANS; INFANT; MALE; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 45549107712     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0119     Document Type: Article

References (16)

1. Amor-Guéret M (2006) Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett 236:1-12.
2. Barakat A, Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A, Amor-Gueret M (2000) Identification of a novel BLM missense mutation (T2706C) in a Moroccan patient with Bloom's syndrome. Hum Mutat 15:584-585.
3. Chester N, Kuo F, Kozak C, O'Hara CD, Leder P (1998) Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev 12:3382-3393.
4. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-666.
5. Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Gueret M (1997) Characterization of a new BLM mutation associated with a topoisomerase IIa defect in a patient with Bloom's syndrome. Hum Mol Genet 6:1427-1434.
6. German J (1969) Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet 21:196-227.
7. German J (1993) Bloom syndrome: a Mendelian prototype of somatic mutational disease. Medicine (Baltimore) 72:393-406.
8. German J, Takebe H (1989) Bloom's syndrome. XIV. The disorder in Japan. Clin Genet 35:93-110.
9. German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA (2007) Syndrome-causing mutations of the BLM gene in persons in the Bloom's syndrome registry. Hum Mutat 28:743-753.
10. Goss KH, Risinger MA, Kordich JJ, Sanz MM, Straughen JE, Slovek LE, Capobianco AJ, German J, Boivin GP, Groden J (2002) Enhanced tumor formation in mice heterozygous for Blm mutation. Science 297:2051-2053.
11. Karow JK, Chakraverty RK, Hickson ID (1997) The Bloom's syndrome gene product is a 3′-5′ DNA helicase. J Biol Chem 49:464-469.
12. Li L, Eng C, Desnick RJ, German J, Ellis NA (1998) Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 64:286-290.
13. Luo G, Santoro IM, McDaniel LD, Nishijima I, Mills M, Youssoufian H, Vogel H, Schultz RA, Bradley A (2000) Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Nat Genet 26:424-429.
14. McDaniel LD, Chester N, Watson M, Borowsky AD, Leder P, Schultz RA (2003) Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. DNA Repair (Amst) 2:1387-1404.
15. Rong SB, Valiaho J, Vihinen M (2000) Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. Mol Med 6:155-164.
16. Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C (1998) High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet Test 2:293-296.