A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency

Human Mutation

Volumn 8, Issue 1, 1996, Pages 77-78

  Peretz, Hava ^a,b   Zivelin, Ariella ^a   Usher, Saly ^b   Seligsohn, Uri ^a  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 11;

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; EXON; GENE DELETION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; INTRON; MALE; PRIORITY JOURNAL; RNA SPLICING;

ADULT; CODON; EXONS; FACTOR XI; FACTOR XI DEFICIENCY; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; RNA SPLICING; SEQUENCE DELETION;

EID: 0030006913     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<77::AID-HUMU12>3.0.CO;2-O     Document Type: Article

References (6)

1. Asakai R, Chung DW, Ratnoff OD, Davie EW (1991) Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 86:7667-7671.
2. Cooper DN, Krawczak M (1993) Gene deletions. In Human Gene Mutation. Oxford: Bios Scientific Publishers, pp 163-208.
3. McKusick VA, Francomano CA, Antonarakis SE (1992) Mendelian Inheritance in Man. Baltimore: The Johns Hopkins University Press, pp 1663-1664.
4. Pugh RE, McVey JH, Tuddenham EGD, Hancock JF (1995) Six point mutations that cause factor XI deficiency. Blood 85:1509-1516.
5. Seligsohn U, Griffin JH (1995) Contact activation and factor XI. In Scriver C-R, Baudet A-L, Sly W-S, Valle D (eds): The Metabolic Basis of Inherited Diseases, Vol. III. New York: McGraw-Hill, pp 3289-3312.
6. Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, Stern C, Weiss E, Seligsohn U (1995) One of the two common mutations causing factor XI deficiency in Ashkenazi-Jews (type II) is also prevalent in Iraqi-Jews who represent the ancient gene pool of Jews. Blood 85:429-432.