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Erratum for Goodeve et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007;109:112-121.

The article by Goodeve et al entitled “Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 vonWillebrand Disease (MCMDM-1VWD)” which appeared in the January 1, 2007, issue of Blood (109:112-121) has been found to contain a factual error by the MCMDM-1VWD partners. Family P10F4I:2 was said to have 2 mutations, N1421K plus L881R. The latter mutation now appears to be a DNA sequencing artifact. As a consequence, P10F4I2 should move from Table 6 to Table 5. This reduces the total number of mutations identified from 124 to 123 and alters the article as follows (numbers altered are indicated by bold text):

Page 114, results under Mutation Analysis should read; 88 had 1 mutation, 16 had 2, and 1 had 3. A total of 123 candidate mutations were identified, of which 74 were different and 53 were novel.

Page 115; Table 2, Group 2 data in 3 rows is altered by the change of patient group of this mutation. A corrected version of this table appears above.

Table 2

Number of mutations and median phenotype in 150 index cases with type 1 VWD

Results under Group 2 should read; Of 51 ICs with NMs and a mutation, 45 ICs had 1 candidate mutation identified (Table 5), while 6 had more than 1 mutation (Table 6). Twenty-three different single missense changes were identified.

In the bottom line of Figure 1, boxes 3 and 4 from the left hand side should read 1 Mutation n = 45, > 1 Mutation n = 6.

Page 116, Table 6; Results under Group 2 should read; 5 group 2 ICs had 2 mutations: 4 had 2 missense changes, while the fifth had a missense plus a splice site change. 4 of the 5 were compound heterozygotes, while 1 had allelic changes (Table 6).

Page 118 & 119; Data on P10F4I:2 more properly belongs in Table 5. The titles for these 2 tables should now read:

Table 5. VWF mutations and phenotype in 45 group 2 index cases with normal multimers and a single mutation.

Table 6. VWF mutations and phenotype in 6 group 2 index cases with normal multimers and more than 1 mutation.

Page 120, paragraph 3; Discussion, should read: Only a few such mutations were identified in this cohort (14 of 123 mutations, 11%).

The following mutations did not correctly follow Human Genome Variation Society guidelines http://www.hgvs.org/mutnomen/ and should be amended as below. Numbering follows the reference sequences for cDNA NM_000552.3, gDNA ENSG00000110799 and protein NP_000543.2.

In Table 3, P3F1II1, D1277-E78delinsL should read D1277_L1278delinsE; P2F16II2, 7239C>T should read 7085G>T.

In Table 4, P2F1II1, 4449delG (L1481fs) should read 4453delG (V1485fs).

In Table 5, Various IC, −2520C>T should read −2522C>T; P3F10II1, S1024fs should read W1025fs; P12F4II12, 3839–3845ins7 (F1280fs) should read 3839_3845dup7 (D1283fs); P5F6II3, 7551G>A should read 7552G>A.

In Table 6, P7F14I1, −3266G>C should read −3268G>C; P7F14I1, −2730C>T should read −2731C>T; P7F14I1, −2326T>C should read −2328T>C.