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Molecular diagnosis and clinical features of 117 Japanese FA patients
Table 2. Clinical phenotype of 10 Japanese Fanconi anemia patients with VACTERL-H association.
Individual Affected gene
Mutation patterns
c.2546delC: p.S849FfsX40
VACTERL-H features
C: PDA
R: Left renal agenesis L: Bilateral absent thumbs/ Bilateral radial hypoplasia
V: scoliosis
C: ASD/Persistent left superior vena E: Esophageal atresia
E: Esophageal atresia
R: Right pelvic kidney
L: Bilateral thumb hypoplasia
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
FA-features
Short stature
Skin pigmentation
Deafness
Right inguinal hernia Bicornuate uterus Short stature (-1.8SD)
Jejunal atresia Strabismus Short stature (-4SD)
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)
Family Birth DEB AL
history weight SD of FA* score
+ -1.9
- -2.1
- -2.3 - -4.8
- -2.8
- -2.53 - -1.7 + -0.9
induced ***
chromosome breakage (breaks /cell)
genotype
Case 18-1
Case 30
Case 37
Case 60
Case 61
Case 64
Case 69
Case 73-1
FANCA
FANCA
FANCA
FANCB
c.4042_4043insC: p.I1348TfsX77 c.2546delC: p.S849FfsX40
c.2546delC:
p.S849FfsX40 c.2546delC: p.S849FfsX40
c.3295C>T: p.Q1099X
complete loss
0.44 AA
2.06 GG
0.12 GG
3.8 GG
4.2 GA
7.8 GG
8.54 GA
3.49 GA
of FANCB gene
(chrX g.14730104-14904216 del)
FANCB
FANCC
FANCG
FANCG
complete loss
of FANCB gene
(chrX g.14810970-14932973 del)
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: 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
haematologica | 2019; 104(10)
c.307+1G>C
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