. 2020 Mar 23;99(5):955–962. doi: 10.1007/s00277-020-03986-8

Table 4.

Genetic variants, phenotype, and family history of 2 patients with congenital dyserythropoietic anemia (CDA)

Patient	Diagnosis	Bone marrow morphology	Genes	Variants	Alleles	ID dbSNP/HGMD Accession	Annotation	CAAD score	α-LELY (Y/N)	Family evaluation
25	CDA I	Internuclear bridges, multilobulated erythroblasts	CDAN1 (exon 13; 17)	NM_138477: c.G2407T (p.G803*); C1939T (p.P647S)	HT	NA/NA rs760570690/NA	Nonsense, missense	Pathogenic/ Unc Sig/26.8	Y	No family history. Each parent has one recessive mutation
42	CDA I	Internuclear bridges, multilobulated erythroblasts	CDAN1 (exon 19)	NM_138477:c.G2605A (p.V869M)	HO	rs370895637/ CM023036	Missense	Unc Sig/28.8	N	No family history. Parental sample not available

Patient

Diagnosis

Bone marrow morphology

Genes

Variants

Alleles

ID dbSNP/HGMD Accession

Annotation

CAAD score

α-LELY
(Y/N)

Family evaluation

CDA I

Internuclear bridges, multilobulated erythroblasts

CDAN1 (exon 13; 17)

NM_138477: c.G2407T (p.G803*);

C1939T (p.P647S)

NA/NA

rs760570690/NA

Nonsense, missense

Pathogenic/

Unc Sig/26.8

No family history. Each parent has one recessive mutation

CDA I

Internuclear bridges, multilobulated erythroblasts

CDAN1 (exon 19)

(p.V869M)

rs370895637/

Missense

Unc Sig/28.8

No family history. Parental sample not available

HT heterozygosis, HO homozygosis, ? unknown type