Page 325 - Haematologica April 2020

Errata corrige
continued from previous page
Case 60
Case 61
Case 64
Case 69
Case 73-1
Case 96
Case 99-1
FANCB complete loss of FANCB gene
(chrX g.14730104-14904216 del)
complete loss
of FANCB gene
(chrX g.14810970-14932973 del)
V: Spina bifida occulta/
Abnormal ribs
A: Anal atresia
C: PDA
R: Right renal agenesis L: Right absent thumb/ Partial loss of left thumb
V: Abnormal ribs/Scoliosis A: Anal atresia
C: VSD/PS
E: Duodenal atresia** R: Left renal agenesis L: Bilateral absent thumbs H: Hydrocephalus
A: Anal atresia
C: VSD, PDA
E: Esophageal atresia
Skin pigmentation
Microphthalmus/ Stenocephaly/Ptosis Duodenal stenosis Annular pancreas/ Hypospadias/ Undescended testis Short stature (-6SD) Skin pigmentation Microphthalmus/ Deafness/ Ear canal stenosis Undescended testis (Short stature (-1SD))
Skin pigmentation Deafness/Left aural stenosis/ Right aural atresia Cleft palate
Short stature (-2SD)
Skin pigmentation Short stature (-8SD)
Skin pigmentation
Bilateral aural atresia Short stature (-2.7SD)
Skin pigmentation Microphthalmus Hypogenitalia Short stature (-8SD)
Intestinal malrotation
Duodenal stenosis Short stature (-5.8SD)
− -4.8 3.8 GG
− -2.8 4.2 GA
− -2.53 7.8 GG
− -1.7 8.54 GA
+ -0.9 3.49 GA
− -3.9 0.52 GA
+ -2.3 0.91 AA
FANCB
FANCC
FANCG
FANCG
FANCI
FANCP
c.1154+5G>A: p.S386X
c.1154+5G>A: p.S386X c.307+1G>C
c.1066C>T: p.Q356X
c.307+1G>C
c.307+1G>C c.158-2A>G:p.S54FfsX5
c.288G>A:p.C56FfsX8
c.343delA:
p.S115AfsX11 c.343delA:
p.S115AfsX11
C: Coarctation complex R: Right renal agenesis/ Left renal cyst
L: Bilateral absent thumbs/ Right radial hypoplasia
C: PDA
R: Left renal agenesis L: Right absent thumb/ Bilateral radial hypoplasia
A: Anal atresia
C: VSD/PDA
R: Right renal agenesis/ Left renal hypoplasia L: Bilateral absent thumb/ Bilateral absent radius H: Hydrocephalus
C: ASD/VSD/PS
R: horseshoe kidney
L: Bilateral floating thumbs/ bilateral radial hypoplasia
*Case 18-1, 73-1, and 99-1 had a sibling with Fanconi anemia (FA). ** Duodenal atresia is considered to be a part of the VACTERL association by some reports.27 ***ALDH2 wild type and the inactivating mutation (p.Glu504Lys) allele is referred to as G and A, respectively. ALDH2: aldehyde dehydrogenase-2; ASD: atrial septal defect; BM: bone marrow; DEB: diepoxybutane; PDA: patent ductus arteriosus; PS: pulmonary stenosis; SD: Standard Deviation;VACTERL-H: vertebral anomalies, anal atresia, cardiac anomalies, tracheal- esophageal fistula, esophageal atresia, renal structural abnormalities, limb anomalies, and hypocephalus;VSD: ventricular septal defect.
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