(The American Journal of Human Genetics 86, 222–228; February 12, 2010)
An incorrect version of Table 3 was included in the original manuscript and contains some errors in the data for P6, P16, and P17. A correct version of the table is included below.
Table 3.
Sequence Changes in RPS26 in DBA Patients
| Mutation Type |
Proband's ID (Gender) Inheritance |
Family Members |
DNA Mutation |
Exon/ Intron |
Predicted Amino Acid Change |
Age at Diagnosis | Malformation Status | Response at First Steroid Therapy |
Present therapy |
|---|---|---|---|---|---|---|---|---|---|
| Missense mutation | P6 (M) de novo | f, m, s: normal sequence | c. 1A>T | Ex1 | Met1Leu | NA | cleft lip and palate | responsive | steroid therapy |
| P7 (M) familial | f, m: normal sequence | c. 1A>G | Ex1 | Met1Val | 2 months | none | responsive | steroid therapy | |
| d of P7 | c. 1A>G | Ex1 | Met1Val | 6 weeks | none | unresponsive | RBC trx | ||
| P8 (M) de novo | f, m: normal sequence | c. 1A>G | Ex1 | Met1Val | NA | none | unresponsive | RBC trx | |
| P9 (M) familial | c. 1A>G | Ex1 | Met1Val | NA | none | responsive | steroid therapy | ||
| d of P9 | c. 1A>G | Ex1 | Met1Val | NA | none | responsive | no therapy | ||
| P10 (M) sporadic | c. 1A>G | Ex1 | Met1Val | 7 weeks | duplicated pelvocalicon on right kidney | unresponsive | RBC trx | ||
| P11 (M) familial | d: normal sequence | c. 1T>G | Ex1 | Met1Arg | NA | NA | NA | NA | |
| P12 (M) de novo | f, m, s: normal sequence | c. 97G>A | Ex2 | Asp33Asn | 8 months | inguinal hernia, missing vas deferens (unilateral), slightly abnormal epidymis, pronounced boney prominence of a cervical spinous process | unresponsive | RBC trx | |
| P13 (M) de novo | f, m, s: normal sequence | c.344T>C | Ex4 | Met115Thr | 8 months | none | responsive | no therapy | |
| Insertion | P14 (F) sporadic | c. 31_32 ins.G | Ex2 | Frameshift at codon 11; stop at 25 | NA | none | unresponsive | deceased | |
| Splice-Site Mutations | P15 (M) sporadic | s: normal sequence | Donor splice site IVS1 +1g>c | Int1 | |||||
| P16 (M) | f, m, s, b: normal sequence | Donor splice site IVS1 +1g>a | Int1 | NA | none | unresponsive | deceased | ||
| P17 (F) de novo | f, m: normal sequence | Donor splice site IVS1 + 1g>t | Int1 | NA | NA | NA | NA |
Abbreviations are as follows: P, proband; f, father; m, mother; d, daughter; s, sister; b, brother ins, insertion; Ex, exon; In, intron; mo, month; y, year; NA, not available; RBC trx; red blood cell transfusion.
In addition, there is a typo on page 224, line four from the bottom. The text currently reads RPL26. This should be RPS26.
The authors regret these errors.