Genetic And Molecular Basis Of Fa

Fanconi anemia is highly heterogeneous, not only at the clinical level, but also at the genetic level. Laboratory studies using cell lines from 241 unrelated FA patients have revealed as many as 11 distinct ''complementation groups'' or genetic subtypes.[4] For 8 of these groups the disease gene has been identified (Table 2). FANCC,

Table 1 Clinical symptoms associated with FA Congenital abnormalitiesa

Skeleton: Aplastic or hypoplastic radii and thumbs, short stature, small head.

Kidneys: Ectopic, horseshoe.

Other: Heart abnormalities, intestinal atresia, microphthalmia, hypogonadism, abnormal shape of the ears, deafness, skin pigmentation abnormalities.


Bone marrow failure or aplastic anemia occurs typically at 5-10 years. Cancer risk

Increased risk of AML, mostly occurring at age 5-15 years. At older ages, there is an increased risk of head and neck or esophageal cancer, as well as, in females, cancer of the vulva and vagina.

FA-D1 patients (with biallelic mutations in BRCA2) develop malignancies at a much earlier age (15-17 years). Other symptoms

Endocrinopathy affecting the pancreas (diabetes mellitus) and thyroid; reduced fertility and early menopause.

'Congenital anomalies may be absent altogether.

Table 2

FA subtypes and genes

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