Research Article

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

Table 3

Mutation detection in unclassified FA patients.

SampleGeneMut 1Effect 1Mut 2Effect 2Note

Unc1BRCA2c.T8067Ap.C2689Xc.9672_9673insAp.I3224fs[10, 11]
Unc2FANCD2c.904C>Tp.R302Wc.2715+1G>Asplicing[12, 13]
Unc3FANCIc.G3041Ap.C1014Yc.G3041Ap.C1014YNovel
Unc4FANCLc.755_756insATp.M252fsc.755_756insATp.M252fsNovel
Unc5NF*NF*

Annotations are based on the following transcripts: BRCA2, NM_000059.3; FANCD2, NM_033084.3; FANCI, NM_001113378.1; FANCL, NM_001114636.1.
*NF = not found.