Table 4 Correlation between gene mutation sites and clinical manifestations
From: Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review
c.183-184TA > CT & c.285 + 2T > C positive | Phenotypes of other genes | χ2 | P | |
|---|---|---|---|---|
Case number | 48 | 75 | ||
Male [n (%)] | 21(43.8) | 33(44.0) | 0.001 | 0.98 |
Median age of onset | 2.4 months* | 1.2 months* | — | — |
Hypocytosis [n (%)] | 47(97.9) | 74(98.7) | —a | 1.00 |
Neutropenia [n (%)] | 44(91.7) | 62(82.7) | —a | 0.19 |
Three lineages decreased [n (%)] | 12(25.0) | 26(34.7) | 1.281 | 0.26 |
Secondary tumor [n (%)] | 3(6.3) | 4(5.3) | —a | 1.00 |
Pancreatic diseases [n (%)] | 44(91.7) | 72(96.0) | —a | 0.43 |
Failure to thrive [n (%)] | 40(83.3) | 62(82.7) | 0.009 | 0.92 |
Skeletal anomalies [n (%)] | 41(85.4) | 56(74.7) | 2.209 | 0.15 |