Demographic, phenotypic, and genetic features of NDUFB11 CSA patients and family members
| ID no. . | Nationality . | Age, y . | Sex . | Affected status . | HGB, g/dL . | MCV, fL . | RDW, % . | X-inactivation ratio . | Transfusion status . | Iron overload . | cDNA . | Protein . | Syndromic features . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 05-I-1 | Swedish | 32 | F | No | 12.6 | 82 | 12.6 | 0.75 | NA | NA | +/+ | +/+ | NA |
| 05-I-2 | Swedish | 32 | M | No | 16.2 | 86 | 12.3 | NA | NA | NA | +/+ | +/+ | NA |
| 05-II-1 | Swedish | 2 | M | Yes | 8.9 | 94 | 23.3 | NA | At birth | No | c.276_278del/Y | p.F93del/Y | Short stature |
| 400-I-1 | European American | 73 | F | No | 12.6 | 92 | 14.3 | NP | NA | NA | +/+ | +/+ | NA |
| 400-I-2 | European American | 76 | M | No | 15 | 89 | 12.8 | NA | NA | NA | +/Y | +/Y | NA |
| 400-II-1 | European American | 52 | F | No | 14.1 | 89 | 12.7 | NP | NA | NA | +/+ | +/+ | NA |
| 400-II-2 | European American | 51 | F | No | 13.5 | 96 | 12.8 | 0.09 | NA | NA | c.276_278del/+ | p.F93del/+ | NA |
| 400-II-3 | European American | 52 | M | No | 14.3 | 96 | 12.6 | NA | NA | NA | +/Y | +/Y | NA |
| 400-III-1 | European American | 26 | F | No | 13.8 | 103* | 12.2 | NP | NA | NA | +/+ | +/+ | NA |
| 400-III-2 | European American | 23 | M | Yes | 8 | 96 | 26.4 | NA | Intermittent | No | c.276_278del/Y | p.F93del/Y | Myopathy, lactic acidosis |
| 400-III-3 | European American | 21 | F | No | 13.5 | 98 | 12.8 | 0.01 | NA | NA | c.276_278del/+ | p.F93del/+ | NA |
| M-II-1 | British | 20 | M | Yes | 11.1 | 94 | ↑ | NA | Chronic | Yes | c.276_278del/Y | p.F93del/Y | Congenital optic atrophy, short stature, develop-mental delay |
| M-II-2 | British | 16 | M | Yes | 9.5 | 95 | ↑ | NA | Chronic | Yes | c.276_278del/Y | p.F93del/Y | Congenital optic atrophy, short stature, develop-mental delay |
| D-I-1 | German | 8 | M | Yes | 10.5 | 86 | ↑ | NA | Chronic | Yes | c.276_278del/Y | p.F93del/Y | Epilepsy, myopathy, single kidney, pulmonary stenosis, congenital inguinal hernia |
| ID no. . | Nationality . | Age, y . | Sex . | Affected status . | HGB, g/dL . | MCV, fL . | RDW, % . | X-inactivation ratio . | Transfusion status . | Iron overload . | cDNA . | Protein . | Syndromic features . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 05-I-1 | Swedish | 32 | F | No | 12.6 | 82 | 12.6 | 0.75 | NA | NA | +/+ | +/+ | NA |
| 05-I-2 | Swedish | 32 | M | No | 16.2 | 86 | 12.3 | NA | NA | NA | +/+ | +/+ | NA |
| 05-II-1 | Swedish | 2 | M | Yes | 8.9 | 94 | 23.3 | NA | At birth | No | c.276_278del/Y | p.F93del/Y | Short stature |
| 400-I-1 | European American | 73 | F | No | 12.6 | 92 | 14.3 | NP | NA | NA | +/+ | +/+ | NA |
| 400-I-2 | European American | 76 | M | No | 15 | 89 | 12.8 | NA | NA | NA | +/Y | +/Y | NA |
| 400-II-1 | European American | 52 | F | No | 14.1 | 89 | 12.7 | NP | NA | NA | +/+ | +/+ | NA |
| 400-II-2 | European American | 51 | F | No | 13.5 | 96 | 12.8 | 0.09 | NA | NA | c.276_278del/+ | p.F93del/+ | NA |
| 400-II-3 | European American | 52 | M | No | 14.3 | 96 | 12.6 | NA | NA | NA | +/Y | +/Y | NA |
| 400-III-1 | European American | 26 | F | No | 13.8 | 103* | 12.2 | NP | NA | NA | +/+ | +/+ | NA |
| 400-III-2 | European American | 23 | M | Yes | 8 | 96 | 26.4 | NA | Intermittent | No | c.276_278del/Y | p.F93del/Y | Myopathy, lactic acidosis |
| 400-III-3 | European American | 21 | F | No | 13.5 | 98 | 12.8 | 0.01 | NA | NA | c.276_278del/+ | p.F93del/+ | NA |
| M-II-1 | British | 20 | M | Yes | 11.1 | 94 | ↑ | NA | Chronic | Yes | c.276_278del/Y | p.F93del/Y | Congenital optic atrophy, short stature, develop-mental delay |
| M-II-2 | British | 16 | M | Yes | 9.5 | 95 | ↑ | NA | Chronic | Yes | c.276_278del/Y | p.F93del/Y | Congenital optic atrophy, short stature, develop-mental delay |
| D-I-1 | German | 8 | M | Yes | 10.5 | 86 | ↑ | NA | Chronic | Yes | c.276_278del/Y | p.F93del/Y | Epilepsy, myopathy, single kidney, pulmonary stenosis, congenital inguinal hernia |
↑, documented as increased, but original value not retrievable from the medical record; cDNA, complementary DNA; F, female; HGB, hemoglobin; ID, identification; M, male; MCV, mean corpuscular volume; NA, not applicable; NP, not performed; RDW, red cell distribution width.
High MCV likely secondary to reticulocytosis following recent blood donation.