Page 89 - Haematologica Vol. 107 - September 2022

ARTICLE - Inherited cytopenias in children
O. Gilad et al.
Haematologica | 107 September 2022
2088
Table 3. Clinical characteristics of patients referred with the diagnosis of Inherited bone marrow failure syndrome (diagnosed with next generation sequencing panel).
Patient
Ethnic origin/ Consanguinity (+/-)
Gene
Disease/ Inheritance
MHGVS Coding
Age at presentation/ diagnosis
Hematological presentation
BM, cytogenetics and functional tests
Extra hematological manifestations
Outcome
5612
Arab Muslim
(+)
FANCA
FA/AR
NM_000135.4: c.3749_3750insT-Hm
7y/8y
Pancytopenia
Hypoplastic marrow, increased chromosomal breakage
Short stature, café au lait spots
Followup
5409
Jewish (-)
FANCA
FA/AR
1. NM 000135.2: c.2172-2173 insG-Ht 2.NM_000135.4: c.891_893+1delCTGG-Ht
6y/6y
Pancytopenia
Hypoplastic marrow, monosomy 7, increased chromosomal breakage
None
Post HSCT
4840 5011
Arab Muslim Yazidi (+)
(+)
FANCA FANCA
FA/AR FA/AR
NM_000135.2: c.4069 4070insT-Hm
6y/7y 4y/14y
Pancytopenia
Hypoplastic marrow, del7q
Short stature
Lost to followup
3167
Arab Muslim
(+)
FANCS (BRCA1)
FA/AR
NM_007300.4: c.1115G>A – Hm
1-7d/4y
Anemia
Normal
Café au lait spots, short stature, dysmorphism, developmental delay
Followup
5115
Arab Muslim
(+)
FANCE
FA/AR
NM 021922.2: c.1114-8G>A -Hm
1y/10y
Pancytopenia
Aplastic marrow
Café au lait spots, short stature
Post 2nd HSCT
4294
Jewish (-)
TERT
DC/AD
NM_198253.3: c.2834_2842delACTACTCCA insCACCT-Ht
1-7d/30y
Pancytopenia
Red cell hyperplasia
Short stature, splenomegaly
Followup
4324
Arab Muslim (-)
TERC
DC/AD
NR_001566: r.172A>G -Ht
4y/8y
Pancytopenia
Hypoplastic marrow, short telomeres
Café au lait spots, short stature
Post HSCT
3884
Jewish (-)
WRAP53
DC/AR
NM_001143990.1: c.936c>G-Hm
1-7d/4y
Pancytopenia
Hypocellular marrow, short telomeres
Short stature
Followup
NM 000135.2: c.1361_1374delinsGAG -Hm
Neutropenia, thrombocytopenia
Severe aplastic marrow, complex karyotype
Café au lait spots
Lost to followup
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