Correction to: Journal of Human Genetics (2016) 61, 483-489; doi:10.1038/jhg.2016.7; published online 25 February 2016

Incorrect description in the above article was noticed after its publication.

1. In Table 1, we showed ‘Patient no. 30: Ex20 c.2612A>C, p.Lys871Thr, Missense’.

Table 1 67 cases with different mutations diagnosed by MLPA or Sanger sequencing
Full size table

2. Although the patient had this variant, he was later diagnosed as having facioscapulohumeral muscular dystrophy (FSHD).

In the section Materials and methods: Patients, we want to add these sentences written in italic.

Patients

We chose 67 cases with different mutations to test the clinical utility of our method: 17 cases with common deletions, 20 cases with common duplications (two of them with discontinuous double duplications) and 30 cases with point mutations, including nonsense mutations, deletions, insertions, splice regions and missense mutations (Table 1). Patient 30 had a variant with unknown significance in DMD. He was later found to have a pathogenic 10 kb D4Z4 allele at 4q35 by Southern blot analysis and diagnosed as facioscapulohumeral muscular dystrophy (FSHD) after publication. Although his muscle pathology was reported from other hospital described faint and patchy staining pattern, the variant c.2612A>C is likely to be a benign polymorphism. All deletion/duplication patterns are frequently diagnosed by MLPA in our laboratory, as shown in Supplementary Tables S1 and S2 and Supplementary Figures S1 and S2. Among 30 small mutations, 10 mutations were located within five or more consecutive bases (P16, 18, 19, 22, 25, 26, 27, 28, 29 and 30) and 5 mutations were deletion/insertion of more than nine bases (P12, 17, 21, 23 and 24). These mutations were predicted to be difficult to detect by Ion Torrent sequencer. All clinical information and materials used in this study were obtained for diagnostic purposes with written informed consent. This study was approved by the ethics committee of the National Center of Neurology and Psychiatry.

The correction does not alter the results and their interpretation as discussed in the paper.

The authors would like to apologize for this mistake.