Page 90 - Haematologica Vol. 107 - September 2022

ARTICLE - Inherited cytopenias in children
O. Gilad et al.
Haematologica | 107 September 2022
2089
Patient
Ethnic origin/ Consanguinity (+/-)
Gene
Disease/ Inheritance
MHGVS Coding
Age at presentation/ diagnosis
Hematological presentation
BM, cytogenetics and functional tests
Extra hematological manifestations
Outcome
4336
5484
579
5496
5810
3969
5541
Arab Muslim
(-)
TINF2 RPS19 RPS10 RPS26 RPS28 RPL15 CECR1
DC/AD
NM_001099274.3: c.813dupA-Ht
4y/5y 1-7d/2.5y
Pancytopenia Anemia
Hypoplastic marrow, short telomeres
None
None
None
None
None Preterm 27 weeks None
Lost to followup
5112
Arab Muslim (+)
MYSM1
BMF/AR
NM_001085487.2: c.2329-2A>G-Hm
Hypocellular marrow
Dysmorphic features
Followup
3941
Druze (+)
ERCC6L 2
BMF/AR
NM_020207.4: c.3525+2T>G – Hm
7y/9y
Pancytopenia
Hypocellular marrow
Short stature, dysmorphic facies, café au lait spots, hearing loss, developmental delay, schizo- affective disorder
Followup
Jewish (-)
DBA/AD
NM_ 001022.4: c.384_385delAA -Ht
Hypoplastic and mild red cell dysplasia
Followup Post HSCT Followup Followup Followup Followup
Jewish (-)
DBA/AD
NM_001202470.2: 8-28d/30y Anemia c.71A>G-Ht
Aplastic marrow
Arab Muslim
(-) (-)
DBA/AD
NM_001029.5: c.23delA-Ht
8-28d/41y
Anemia
Not done
Arab Muslim
DBA/AD
NM_001031.4: c.2T>C -Ht
1-7d/2y
Anemia, neutropenia
Mild dysplastic red cell precursors
Jewish (-)
DBA/AD
NM_001253379.2: 1-7d/0.4y Anemia c. 29T>C – Ht
Pure red aplasia Pure red aplasia
Arab Christian (+)
DBA-like/ AR
NM_001282225.1: c.1397_1403del-Hm
8-28d/20y 1-7d/1.2y
Anemia Pancytopenia
NGS: next generation sequencing; BM: bone marrow; BMF: bone marrow failure; AR: autosomal recessive; AD: Congenita; DBA: Diamond-Blackfan anemia; Ht: heterozygous; Hm: homozygous; HSC: hematopoietic stem
autosomal dominant; y: years; d: days; FA: Fanconi anemia; DC: Dyskeratosis cell transplantation.