Table 1.
Clinical observations and hematologic presentation of patients with the FANCL c.1092G>A variant
| Patient ID | FANCL mutations | Ethnic/ Regional origin | Parental Consanguinity | Age at diagnosis | Hematologic phenotypea | Congenital abnormalities | Other clinical observations | VACTERL-He |
|---|---|---|---|---|---|---|---|---|
| IN01* | c.1092G>A; c.1092G>A | Karnataka, India | 3rd degree | 10 | Severe AAb | Hyper- & hypo-pigmentation; bilateral hypoplastic testes | failure to thrive; bronze skin tone | |
| IN02* | c.1092G>A; c.1092G>A | Maharashtra, India | 1st degree | 10 | Pancytopenia | short stature | ||
| IN03* | c.1092G>A; c.1092G>A | Maharashtra, India | 2nd degree | 2.8 | Pancytopenia w/macrocytosis | Café-au lait spots; epistaxis | ||
| IN04* | c.1092G>A; c.1092G>A | Karnataka, India | 2nd degree | 4 | Severe AA | Hyperpigmentation; short stature | ||
| IN05* | c.1092G>A; c.1092G>A | Maharashtra, India | 2nd degree | 5 | Hypoplastic hypocellular marrow | White spots on palm; increased folic acid levels | Increased prothrombin time | |
| IN06* | c.1092G>A; c.1092G>A | Karnataka, India | not known; estimated to be 2nd-degree from genotype data | 3 | Thrombocytopenia | Bilateral index finger; short stature | Brother diagnosed with FA @ age 6 (died of infection/ bleeding) | L |
| IN07 | c.1092G>A; c.1092G>A | Maharashtra, India | 3rd degree | 3 | Pancytopenia | Hyperpigmentation; short stature; triangular facies | ||
| IN08 | c.1092G>A; c.1092G>A | Tamil Nadu, India | not known | 7 | Pancytopenia | Hyperpigmentation; café-au lait spots | ||
| IN09 | c.1092G>A; c.1092G>A | Tamil Nadu, India | not known | 3 | Pancytopenia | Hyperpigmentation; short stature; microcephaly | ||
| IN10 | c.1092G>A; c.592delA | Madhya Pradesh, India | none | 4 | Severe AA | Hyperpigmentation; white spots – face & mouth; deep eyes; high arched palate | Epistaxis | |
| TKFA33 | c.1092G>A; c.1092G>A | Pakistan | not known | 5 | Severe AA (CBTc @ 6 yrs) | Hyperpigmentation; horseshoe kidney | R | |
| FA17* | c.1092G>A; c.1092G>A | Bihar, India | none | 6.5 | AA (BMTd @ 9 yrs) | Café-au lait spots; microcephaly; Patent ductus arteriosus (PDA) | C | |
| FA91* | c.1092G>A; c.1092G>A | Gujarat, India | 2nd degree | 5 | Severe AA (BMT @ 7 yrs) | Café-au lait spots |
*
SNP array genotyping was performed on DNA from these patients
a
The cytopenia severity was scored as described (Svahn et al., 2016); BMF status was evaluated by hematologists while referring the samples for the study
b
AA – aplastic anemia
c
CBT – cord blood transplantation
d
BMT – bone marrow transplantation
e
VACTERL-H: verterbral, anal, cardiac, tracheal-esophageal, renal, limbs, hydrocephaly