Erratum

Erratum in : “Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital Cataract” by Lars Hansen, Annemette Mikkelsen, Peter Nürnberg, Gudrun Nürnberg, Iram Anjum, Hans Eiberg, and Thomas Rosenberg (Invest Ophthalmol Vis Sci. 2009;50:3291-3303) doi:10.1167/iovs.08-3149  

In a letter in this journal ¹ Kumar and Santhiya have drawn attention to some errors in our aforementioned study on congenital cataract. In family CC00133, we reported a presumed pathogenic allele in CRYBB2 carrying three non-synonymous DNA variations c.(433C_T; 440A_G;449C_T); p.(Arg145Trp;Gln147Arg;Thr150Met). The three variations (NCBI dbSNP135: rs2330991, rs2330992, rs4049504) were shown to be caused by erroneous amplification of the CRYBB2 gene and the CRYBB2P1 pseudogene. A 20 Kb segmental duplication (chr22:25622857-25643059 and chr22:25850716-25867764, UCSC hg19) covers CRYBB2 and the pseudogene CRYBB2P1 making design of PCR primers for CRYBB2 complex. 

We re-analyzed the family using the original PCR primers and two other primers pairs suggested by Kumar and Santhiya, ¹ and were able to confirm that the three mutations in cis, in fact, are PCR sequencing artefacts due to mis-priming. Therefore, the gene conversion events reported for family CC00133 in the original article are incorrect and hereby withdrawn. 

In addition, some errors were introduced in the list of PCR primers (Supplementary Table S1). The errors have been corrected in the Table below. 

Citation: Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T. Erratum in: Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 2009;50:3291–3303. doi:10.1167/iovs.08-3149a. 

Corrected Supplementary Table S1. 

 

The Following Primer Sequences or Primer Names Have Been Changed

Gene	Exon	Forward	Reverse	Length
CRYAB	Ex1	GTCTCCATGAACTGCTGGTG*	AGGCACTAGCAACCTCCTCA*	498
	Ex2	GGATGAATTACCCGGACAGA*	ATCCCGACTGTTATGGCTTG*	352
CRYBB1	Ex1	TGTGTGTGCTGGTCTCACAA*	TCCCTCCCTTTCTTCCTCTC*	382
	Ex2	GCTGGGAAGTAGGGATGAAA*	GCCAAGAAAAAGGAGGAGAAA*	493
	Ex3	CAGTAAAGAATTGGGGGATGG*	CGAGCCTCAGTTTCCTCATC*	483
	Ex4	CTTGCCCATAGTCACACAGC*	ATCCACGGTCCTTTGACAAC*	462
	Ex5	TCCAGACTAGACAGCAGTGGTC*	GCCATGGCCTTCTCTAGG*	400
CRYBB2	Ex2†	GACCTCGTTTTTCCCTCCTC	CTGGGGAGGGACTTTCAGTA	479
	Ex3†	CCATTTTACAGACGGGGAGA	CTGCCAGACCCCAAAACTT	470
	Ex4†	GTGGGTAAAGGCAGCATAGC	GGCAGAGAGAGGGAGTAGGG	378
	Ex5†	GTGTGCAAGTGTGGTGTGC*	GAAGCCAGAGGTCAGCAGAG	669
	Ex6†	GAGGCTTCACCCTTCCTAGTG	TCTCATTTCTCTCTCGCTGTCA*	493
CRYBB3	Ex3	GGCTGGAGAGATGCAGAAAG	TTACAGATGCGGAAAACGA*	371
HSF4	Ex3†	TCCACTCCACTCCACACATC	TTCTCTGAATGGCCAAATCC	468
	Ex4-5†	AGGCCTGGACCCAAGAGT	AGCACCCCTCCTCCTCTTT	492
	Ex6-7†	CACGTCGAGTTCCAGCAC	GTGGAATGGGGTGTCGAG	674
	Ex7-8†	CAGCCTCGCCATTCTGTG	CAGGGGGAGGAATGAGGAT	496
	Ex9-10†	TAGCAACAGGCCTCAGCTCT	TGGCACTGACTTCTCCCTCT	694
	Ex11†	AGGCTCTGCTTTCCACAGAA	GCTTTCTCCCTCCAGTGATG	515
	Ex12-13†	CTTGATGCATCTGGGTTC	GACCAGAGGGCTTGACTCAG	404
	Ex13-14†	CAGAGCTCTCCTCAGGTGCT*	AACTCAGGATTTCCCTGCAA*	431
	Ex15†	TGGATGTTTTATCCTAACTGAGCA	AGGGATAGTCGGGGTAGTGG	395
MAF	ex1.1†	GAGCGAGGGAGCACATTG*	CCGGTTCCTTTTTCACTTCA*	352
	ex1.2†	AACTGGCAATGAGCAACTCC*	GTGGTGGTGGTGGTGGTGGT*	511
	ex1.3†	AACAGCCACCAGCTCCAG*	CTGGTTCTTCTCCGACTCCA*	609
	ex1.4†	AGCTGGTGACCATGTCTGTG*	AGAACTAGCAAGCCCACACC*	407
	ex2†	AAATCCTGAGTAAGTGCCATTCA*	GTTGCATTCCGGGAAACTT*	575
PITX3	Ex2†	GCCAGGGAATTTACGAGGA	CGAGGCCTTTTCTGAGTCTG*	411
	Ex3†	GCGAGTGGCTTAGGAGGTC	GGTCCGAGTAGTAGGGAGCA	484

 All PCR primer pairs match hg19 by in-silico PCR, UCSC genome browser; noncoding exons for the genes CRYBB2 and HSF4 have not been sequenced.

*  PCR primer sequences corrected.

†  Exon number and names corrected.