Results of 19q and 8p haplotype analysis andRPS19 gene sequencing in the 38 DBA pedigrees
| . | UPN (P) . | 19q haplotype . | 8p haplotype . | RPS19 gene mutation . | DBA phenotype in the pedigree . | |||
|---|---|---|---|---|---|---|---|---|
| A . | MCV . | eADA . | CA . | |||||
| A | 1 | − | + | − | SA | H | ↑ | Webbed neck, duplicated thumb, congenital heart defect |
| 2 | − | + | − | SA | N | ND | Double ureter | |
| 4 | − | + | − | SA | N | ND | None | |
| 5 | + | + | − | SA | N | ND | Short stature | |
| 7 | + | − | − | SA | N | ND | Webbed neck, mental retardation | |
| 8 | + | − | − | SA | N | ND | None | |
| 10 | + | − | − | SA | H | ND | High arched palate | |
| 11 | − | + | − | SA | H | ↑ | Abnormal toes | |
| 14 | + | + | exon 5, T392G | SA | N | ↑ | None | |
| 15 | − | − | − | SA | H | ↑ | Extra lobe of kidney | |
| 16 | − | − | − | SA, MA | H | ↑ | Abnormal thumb | |
| 17 | − | + | − | SA | H | N | None | |
| 18 | − | + | − | SA | H | ND | None | |
| 19 | − | − | − | SA | N | ND | None | |
| B | 20 | + | − | − | SA | H | ND | None |
| 21 | No vertical transmission | − | SA | N | ↑ | None | ||
| 22 | − | − | − | SA | H | ↑ | None | |
| 23 | + | − | exon 4, G185A | SA, MA | H | ↑ | Short stature | |
| 25 | + | − | − | SA | H | ND | Minor myelomeningocoele | |
| 26 | − | + | − | SA | N | ↑ | None | |
| 27 | − | − | − | SA | N | ND | None | |
| 28 | + | + | − | SA | H | ↑ | None | |
| 30 | − | + | − | SA | N | ↑ | None | |
| 32 | No vertical transmission | − | MA | N | ND | Short stature, mental retardation | ||
| 34 | − | + | − | SA, MA | H | ND | Hypertelorism, blue sclera | |
| 37 | − | + | − | SA | H | ↑ | Double kidney | |
| 38 | No vertical transmission | exon 3, G167A | SA | N | ↑ | None | ||
| 39 | − | + | − | SA | N | ↑ | None | |
| 40 | + | + | − | SA | H | ↑ | None | |
| 41 | Inconclusive | − | − | SA | H | ↑ | Triphalyngeal thumbs | |
| 42 | − | − | − | SA | H | ↑ | DBA facies | |
| 43 | − | + | − | SA | H | ↑ | Growth retardation, abnormal toes, bifid thumbs, pes cavus, facies | |
| 44 | No vertical transmission | − | SA | H | ↑ | DBA facies, growth retardation | ||
| 45 | Inconclusive-unaffected grandparents | − | MA | H | ↑ | None | ||
| 46 | − | + | − | SA | H | ↑ | None | |
| 47 | No vertical transmission | − | SA | H | ↑ | None | ||
| 48 | − | + | − | SA | N | ↑ | High arched palate, DBA facies, absent radial pulse | |
| 49 | − | − | − | SA | N | ↑ | None | |
| . | UPN (P) . | 19q haplotype . | 8p haplotype . | RPS19 gene mutation . | DBA phenotype in the pedigree . | |||
|---|---|---|---|---|---|---|---|---|
| A . | MCV . | eADA . | CA . | |||||
| A | 1 | − | + | − | SA | H | ↑ | Webbed neck, duplicated thumb, congenital heart defect |
| 2 | − | + | − | SA | N | ND | Double ureter | |
| 4 | − | + | − | SA | N | ND | None | |
| 5 | + | + | − | SA | N | ND | Short stature | |
| 7 | + | − | − | SA | N | ND | Webbed neck, mental retardation | |
| 8 | + | − | − | SA | N | ND | None | |
| 10 | + | − | − | SA | H | ND | High arched palate | |
| 11 | − | + | − | SA | H | ↑ | Abnormal toes | |
| 14 | + | + | exon 5, T392G | SA | N | ↑ | None | |
| 15 | − | − | − | SA | H | ↑ | Extra lobe of kidney | |
| 16 | − | − | − | SA, MA | H | ↑ | Abnormal thumb | |
| 17 | − | + | − | SA | H | N | None | |
| 18 | − | + | − | SA | H | ND | None | |
| 19 | − | − | − | SA | N | ND | None | |
| B | 20 | + | − | − | SA | H | ND | None |
| 21 | No vertical transmission | − | SA | N | ↑ | None | ||
| 22 | − | − | − | SA | H | ↑ | None | |
| 23 | + | − | exon 4, G185A | SA, MA | H | ↑ | Short stature | |
| 25 | + | − | − | SA | H | ND | Minor myelomeningocoele | |
| 26 | − | + | − | SA | N | ↑ | None | |
| 27 | − | − | − | SA | N | ND | None | |
| 28 | + | + | − | SA | H | ↑ | None | |
| 30 | − | + | − | SA | N | ↑ | None | |
| 32 | No vertical transmission | − | MA | N | ND | Short stature, mental retardation | ||
| 34 | − | + | − | SA, MA | H | ND | Hypertelorism, blue sclera | |
| 37 | − | + | − | SA | H | ↑ | Double kidney | |
| 38 | No vertical transmission | exon 3, G167A | SA | N | ↑ | None | ||
| 39 | − | + | − | SA | N | ↑ | None | |
| 40 | + | + | − | SA | H | ↑ | None | |
| 41 | Inconclusive | − | − | SA | H | ↑ | Triphalyngeal thumbs | |
| 42 | − | − | − | SA | H | ↑ | DBA facies | |
| 43 | − | + | − | SA | H | ↑ | Growth retardation, abnormal toes, bifid thumbs, pes cavus, facies | |
| 44 | No vertical transmission | − | SA | H | ↑ | DBA facies, growth retardation | ||
| 45 | Inconclusive-unaffected grandparents | − | MA | H | ↑ | None | ||
| 46 | − | + | − | SA | H | ↑ | None | |
| 47 | No vertical transmission | − | SA | H | ↑ | None | ||
| 48 | − | + | − | SA | N | ↑ | High arched palate, DBA facies, absent radial pulse | |
| 49 | − | − | − | SA | N | ↑ | None | |
Part A contains 14 initially ascertained pedigrees; part B comprises 24 pedigrees ascertained and studied subsequently. UPN (P) indicates unique pedigree number (P); +/−, consistent/inconsistent with linkage to haplotype; A, anemia; SA, severe anemia; MA, mild anemia; H, high MCV; N, in normal range; ↑, eADA > 3 SD; CA, congenital anomalies.