Table 1 Clinical spectrum in patients... | American Society of Hematology

Table 1

Clinical spectrum in patients diagnosed with FERMT3 mutations

Family*	Hematology	Detachment of umbilical cord	Recurrent infection	Wound-healing defect	Bleeding	HSCT	Death	Mutation CALDAGGEF1	Mutation FERMT3
1	TF-dependent anemia (> 7 y)	Late	+	++	+++	+	Post-HSCT	Yes†	Arg509X
2	−	Normal	+	−	+++	−	−	Yes	Arg509X
3	−	Normal	+++	+	+++	+	Post-HSCT	Yes	Arg509X
4 (1)	−	Late	+++	++	++	−	Infection	Yes	Arg509X
4 (2)	−	Normal	+	+	+	−	Hemorrhage	Yes	Arg509X
5	−	Late	+	−	++	+	−	Yes	Arg509X
6 (1)	Anemia (early, transient)	Normal	+	+	+	−	−	Yes	Arg509X
6 (2)	−	Normal	+	+	+	−	−	Yes	Arg509X
7	−	Late	−	−	+	−	−	Yes	Arg509X
8	−	Normal	−	−	++	−	−	No	Arg573X
9	−	Normal	++	++	+++	+	Post-HSCT	No	Trp229X

Family*	Hematology	Detachment of umbilical cord	Recurrent infection	Wound-healing defect	Bleeding	HSCT	Death	Mutation CALDAGGEF1	Mutation FERMT3
1	TF-dependent anemia (> 7 y)	Late	+	++	+++	+	Post-HSCT	Yes†	Arg509X
2	−	Normal	+	−	+++	−	−	Yes	Arg509X
3	−	Normal	+++	+	+++	+	Post-HSCT	Yes	Arg509X
4 (1)	−	Late	+++	++	++	−	Infection	Yes	Arg509X
4 (2)	−	Normal	+	+	+	−	Hemorrhage	Yes	Arg509X
5	−	Late	+	−	++	+	−	Yes	Arg509X
6 (1)	Anemia (early, transient)	Normal	+	+	+	−	−	Yes	Arg509X
6 (2)	−	Normal	+	+	+	−	−	Yes	Arg509X
7	−	Late	−	−	+	−	−	Yes	Arg509X
8	−	Normal	−	−	++	−	−	No	Arg573X
9	−	Normal	++	++	+++	+	Post-HSCT	No	Trp229X

TF indicates transfusion (of erythrocytes); HSCT, hematopoietic stem cell transplantation; and +, mild; ++, moderate; +++, severe; −, absent or negative.

Families 1 through 7 have been described in more detail by Kuijpers et al.²

†

Intronic sequence variant c.1592-3C>A linked to an intronic deletion in the NRXN2 gene.

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