NDLI: Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Gupta, P. K. Saxena, R. Adamtziki, E. Budde, U. Oyen, F. Obser, T. Schneppenheim, R.
Spatial Coverage	India Greece
Description	Country affiliation: India Author Affiliation: Gupta PK ( Department of Transfusion Medicine, Haematology Section, Armed Forces Medical College, Pune-411040, India. paw_5671@hotmail.com)
Abstract	BACKGROUND: Von Willebrand disease type 3 VWD is an autosomal-recessively inherited severe bleeding disorder with a homogeneous phenotype on the basis of very heterogeneous genotypes. Many different molecular defects have been reported to date. We tried to assess the molecular background of Indian and Greek patients with VWD type 3 by doing a complete VWF gene screen in all index patients. MATERIALS AND METHODS: We investigated 21 unrelated Indian and six Greek patients with type 3 VWD. Mutation screening was done by PCR and direct sequencing of the coding VWF exons 2-52 including flanking intron sequences. RESULTS: The diagnosis of VWD type 3 could be confirmed by the detection of null alleles or two mutations each in 22 patients. In one patient only one heterozygous mutation was identified. In four patients no mutations were identified for unknown reasons. Most of the defects cause null alleles. Eight patients had homozygous nonsense mutations - R1659X (6 patients), W553X (1 patients) and L1267X (1 patient); 2 patients were compound heterozygous - R324X/R373X and N318K/Q565X; 3 patients had small insertions - 3259insT, 3737insCC and 7173insT; 2 patients had small deletions - 3938delG and 1381delG; 2 patients had a duplication of 8 bp (duplAGTGTGGA) in exon 28 and a missense mutation (R273W) in exon 7; one patient had a heterozygous mutation K1794E (second mutation not identified); 5 patients had gene conversions between VWF and its pseudogene (117 bp to 335 bp in length corresponding to the 5' end of exon 28). The mutations as part of the gene conversion were - S1263P, P1266L, V1279I, Q1311X, A1317, I1343V, V1360A, and F1369I. CONCLUSION: VWD type 3 is caused by a broad variety of mutations distributed over the entire VWF sequence. As expected most mutations cause null alleles (16/23). The most common molecular defects found were gene conversions and R1659X in exon 28.
File Format	HTM / HTML
ISSN	10799796
Issue Number	2
Volume Number	41
e-ISSN	10960961
Journal	Blood Cells, Molecules, and Diseases
Language	English
Publisher	Elsevier
Publisher Date	2008-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Hematology Mutation Von Willebrand Diseases Genetics Von Willebrand Factor Adolescent Adult Child Child, Preschool Dna Mutational Analysis Female Genetic Testing Greece Humans India Male Journal Article
Content Type	Text
Resource Type	Article
Subject	Cell Biology Hematology Molecular Biology Molecular Medicine

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