Characteristics of DBA patients tested
| Patient no. . | Age at diagnosis . | Sex . | Hb, g/dL . | Large deletion by s-q-PCR . | Large deletion by SNP array . | Inheritance . | Malformations . | Response to first steroid therapy . |
|---|---|---|---|---|---|---|---|---|
| Patients with a large deletion in RP genes | ||||||||
| 3*† | 1 y | M | RPL5 | RPL5 | Sporadic | Short stature, thumb anomalies | Response | |
| 14* | 5 y | M | 5.5 | RPS17 | RPS17 | Sporadic | White spots, short stature | Response |
| 24*† | 1 mo | F | 5.5 | RPS19 | ND | Sporadic | Short stature, SGA | Response |
| 60*† | 2 mo | F | 2.4 | RPS17 | RPS17 | Sporadic | SGA | NT |
| 62*† | 1 mo | F | 6.2 | RPS17 | RPS17 | Sporadic | Small ASD, short stature, SGA | Response |
| 71 | 0 y | M | 5.3 | RPL35A | RPL35A | Sporadic | Thumb anomalies, synostosis of radius and ulna, Cohelia Lange-like face, cleft palate, underdescended testis, short stature, cerebellar hypoplasia, fetal hydrops | NT |
| 72† | 0 y | M | 2 | RPS19 | RPS19 | Sporadic | Thumb anomalies, flat thenar, testicular hypoplasia, fetal hydrops, short stature, learning disability | No |
| Patients without a large deletion in RP genes | ||||||||
| 5* | 1 y | F | 3.1 | ND | ND | Sporadic | ND | Response |
| 15* | 1 mo | F | 1.6 | ND | ND | Sporadic | ND | Response |
| 21* | 1 y | F | 2.6 | ND | ND | Sporadic | ND | Response |
| 26* | 1 y 1 mo | F | 8 | ND | ND | Sporadic | Congenital hip dislocation, spastic quadriplegia, hypertelorism, nystagmus, short stature, learning disability | Response |
| 33* | 2 mo | F | 1.3 | ND | ND | Sporadic | ND | Response |
| 36* | 0 y | M | 8.2 | ND | ND | Familial | ND | Response |
| 37* | 4 y | M | 6.1 | ND | ND | Sporadic | Hypospadias, underdescended testis, SGA | NT |
| 45* | 5 d | M | 5.1 | ND | ND | Sporadic | Short stature, microcephaly, mental retardation, hypogammaglobulinemia | Poor |
| 50* | 2 m | F | 3.4 | ND | ND | Familial | ND | Response |
| 61* | 9 m | M | 4 | ND | ND | Sporadic | ND | Response |
| 63* | 0 y | M | 6.8 | ND | ND | Sporadic | Micrognathia, hypertelorism, short stature | Response |
| 68 | 1 y 4 mo | M | 5.9 | ND | ND | Sporadic | ND | NT (CR) |
| 69 | 1 y | M | 9.3 | ND | ND | Sporadic | ND | Response |
| 76 | 0 y | M | 4 | ND | ND | Sporadic | ND | Response |
| 77 | 0 y | M | 7.8 | ND | ND | Familial | Short stature | No |
| 83 | 9 mo | F | 3 | ND | ND | Sporadic | ND | NT |
| 90 | 10 mo | M | 9 | ND | ND | Sporadic | ND | No |
| 91 | 0 y | F | 3.8 | ND | ND | Sporadic | ND | Response |
| 92 | 2 mo | M | 3.7 | ND | ND | Sporadic | ASD, PFO, melanosis, underdescended testis, SGA, short stature | Response |
| 93 | 11 mo | M | 2.2 | ND | ND | Sporadic | White spots, senile face, corneal opacity, underdescended testis, syndactyly, ectrodactyly, flexion contracture, extension contracture | Response |
| Patient no. . | Age at diagnosis . | Sex . | Hb, g/dL . | Large deletion by s-q-PCR . | Large deletion by SNP array . | Inheritance . | Malformations . | Response to first steroid therapy . |
|---|---|---|---|---|---|---|---|---|
| Patients with a large deletion in RP genes | ||||||||
| 3*† | 1 y | M | RPL5 | RPL5 | Sporadic | Short stature, thumb anomalies | Response | |
| 14* | 5 y | M | 5.5 | RPS17 | RPS17 | Sporadic | White spots, short stature | Response |
| 24*† | 1 mo | F | 5.5 | RPS19 | ND | Sporadic | Short stature, SGA | Response |
| 60*† | 2 mo | F | 2.4 | RPS17 | RPS17 | Sporadic | SGA | NT |
| 62*† | 1 mo | F | 6.2 | RPS17 | RPS17 | Sporadic | Small ASD, short stature, SGA | Response |
| 71 | 0 y | M | 5.3 | RPL35A | RPL35A | Sporadic | Thumb anomalies, synostosis of radius and ulna, Cohelia Lange-like face, cleft palate, underdescended testis, short stature, cerebellar hypoplasia, fetal hydrops | NT |
| 72† | 0 y | M | 2 | RPS19 | RPS19 | Sporadic | Thumb anomalies, flat thenar, testicular hypoplasia, fetal hydrops, short stature, learning disability | No |
| Patients without a large deletion in RP genes | ||||||||
| 5* | 1 y | F | 3.1 | ND | ND | Sporadic | ND | Response |
| 15* | 1 mo | F | 1.6 | ND | ND | Sporadic | ND | Response |
| 21* | 1 y | F | 2.6 | ND | ND | Sporadic | ND | Response |
| 26* | 1 y 1 mo | F | 8 | ND | ND | Sporadic | Congenital hip dislocation, spastic quadriplegia, hypertelorism, nystagmus, short stature, learning disability | Response |
| 33* | 2 mo | F | 1.3 | ND | ND | Sporadic | ND | Response |
| 36* | 0 y | M | 8.2 | ND | ND | Familial | ND | Response |
| 37* | 4 y | M | 6.1 | ND | ND | Sporadic | Hypospadias, underdescended testis, SGA | NT |
| 45* | 5 d | M | 5.1 | ND | ND | Sporadic | Short stature, microcephaly, mental retardation, hypogammaglobulinemia | Poor |
| 50* | 2 m | F | 3.4 | ND | ND | Familial | ND | Response |
| 61* | 9 m | M | 4 | ND | ND | Sporadic | ND | Response |
| 63* | 0 y | M | 6.8 | ND | ND | Sporadic | Micrognathia, hypertelorism, short stature | Response |
| 68 | 1 y 4 mo | M | 5.9 | ND | ND | Sporadic | ND | NT (CR) |
| 69 | 1 y | M | 9.3 | ND | ND | Sporadic | ND | Response |
| 76 | 0 y | M | 4 | ND | ND | Sporadic | ND | Response |
| 77 | 0 y | M | 7.8 | ND | ND | Familial | Short stature | No |
| 83 | 9 mo | F | 3 | ND | ND | Sporadic | ND | NT |
| 90 | 10 mo | M | 9 | ND | ND | Sporadic | ND | No |
| 91 | 0 y | F | 3.8 | ND | ND | Sporadic | ND | Response |
| 92 | 2 mo | M | 3.7 | ND | ND | Sporadic | ASD, PFO, melanosis, underdescended testis, SGA, short stature | Response |
| 93 | 11 mo | M | 2.2 | ND | ND | Sporadic | White spots, senile face, corneal opacity, underdescended testis, syndactyly, ectrodactyly, flexion contracture, extension contracture | Response |
ND indicates not detected; NT, not tested; CR, complete remission; ASD, atrial septal defect; and PFO, persistent foramen ovale.
Status data of Japanese probands 3 to 63 is from a report by Konno et al.8
Large deletions of the parents of 5 DBA patients (3, 24, 60, 62, and 72) were analyzed by s-q-PCR, but there were no deletions in DBA genes in any of the 5 pairs of parents.