Table 1.
Detailed characteristics of heterozygous SCN-CLPB patients
| Sample ID* | Protein p. | cDNA c. | VAF | gnomAD | Sex | Age at diagnosis, y | Pre-G-CSF ANC | Median G-CSF dose (μg/kg/d) | Bone marrow biopsy | Splenomegaly | AML/MDS | Infections | Neurological | Cataracts | Other | 3-MGA† |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fr-0019 | T388K | 1163C>A | 0.33 | 0 | M | 1.5 | <0.5 | 5 | Maturation arrest | No | No | Yes | Negative | Yes | Azoospermia neurinoma (age 41) | No |
| SCNIR-19 | N496K | 1488 T>A | 0.45 | 0 | F | 0.2 | 0.18 | 10.45 | Maturation arrest | Yes | Yes | Omphalitis at birth, otitis | Epilepsy | No | None | N/A |
| SCNIR-73 | E557K | 1669 G>A | 0.37 | 0 | M | 0 | 0.15 | 4.41 | Maturation arrest | No | No | URI | Developmental delays | No | None | N/A |
| SCNIR-2 | R561G | 1681 C>G | 0.26 | 0 | F | 1.6 | 0.00 | 3.96 | Maturation arrest | Yes | No | Otitis, skin abscesses | Negative | No | None | No |
| SCNIR-2698‡ | R561Q | 1682 G>A | Het | 0 | F | 2.1 | 0.10 | 4.59 | Maturation arrest | No | No | Gangrenous appendicitis, sepsis, perianal abscess | Negative | No | None | N/A |
| Fr-0038 | R561Q | 1682 G>A | 0.48 | 0 | F | 0.5 | 0.45 to <1 | 12.61 | Maturation arrest | No | No | No | Negative | No | IUGR, GH deficiency, POF | No |
| Fr-1502 | R561Q | 1682 G>A | 0.52 | 0 | F | 0.25 | 0.1 to <1 | 11.92 | Maturation arrest | No | No | Yes | Negative | Yes | None | N/A |
| Fr-0108 | R561Q | 1682 G>A | 0.47 | 0 | M | 2.5 | 0.7 | No | Maturation arrest | No | No | Aspergillus | Epilepsy | No | Learning difficulties | N/A |
| SCNIR-12 | R620C | 1858 C>T | 0.43 | 0 | F | 0.6 | 0.292 | 3.438 | Maturation arrest | No | No | Otitis, cellulitis, skin abscess, URI | Negative | No | None | No |
| SCNIR-29 | R620C | 1858 C>T | 0.47 | 0 | F | 0.2 | 0.00 | 3.45 | Maturation arrest | No | No | None | Negative | No | None | No |
AML, acute myeloid leukemia; ANC, absolute neutrophil count; F, female; GH, growth hormone; gnomAD, Genome Aggregation Database; Het, heterozygous; IUGR, intrauterine growth restriction; M, male; MDS, myelodysplastic syndrome; N/A, not available; POF, premature ovarian failure; URI, upper respiratory infection; UTI, urinary tract infection; VAF, variable allele frequency.
*
SCNIR, cases identified through the SCNIR North America registry; Fr, cases identified through the French SCN registry.
†
Urine organic acid testing specifically included quantitation of 3-MGA.
‡
Identified initially through clinical sequencing.