FaCD Online Syndrome Fact Sheet

Last updated: 16 Jan 2008

Name: Fanconi Anemia type N

Synonym: FANCN, bi-allelic PALB2 mutations

Mode of Inheritance: AR

Genes

PALB2/FANCN, mapped to 16p12

Tumor features

leukemia, acute myeloid (AML, incl. ANLL)
medulloblastoma
neuroblastoma, adrenal
Wilms' tumor (nephroblastoma)

Non-tumor features

anemia
café au lait spots
heart, congenital defect
microcephaly
mutagen sensitivity, increased
renal anomalies
short stature
thumbs, hypoplastic or absent

Comment

PALB2 is a nuclear binding partner of BRCA2. Germline bi-allelic PALB2 mutations cause Fanconi anemia type N and are associated with a high risk of childhood cancer[1].

Links

Fanconi Anemia Research Fund, Inc. 18 1 08

References

[1] Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nature genetics 2007; 39(2):162-4.