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352 Part IV Disorders of Hematopoietic Cell Development

TABLE Inherited Bone Marrow Failure Syndromes: Inheritance and Mutated Genes—cont’d
29.1
Disorder Inheritance Gene
Thrombocytopenia absent radii syndrome AR RBM8A
Thrombocytopenia with radioulnar synostosis AD HOXA11
Familial autosomal dominant nonsyndromic AD MASTL, ANKRD26, ACBD5, CYCS
thrombocytopenia
Familial platelet disorder with AML AD CDC25C
Thrombocytopenia with dyserythropoiesis XL GATA1
X-linked thrombocytopenia XL WASP
Mediterranean platelet disorder AD GP1BA
Familial thrombocytopenia AD GFI1B
Familial thrombocytopenia AR FYB, SBF2
Gray platelet syndrome AR NBEAL2
Epstein/Fechtner/Sebastian/May-Hegglin/Alport AD MYH9
syndrome
Familial macrothrombocytopenia AR FLNA, ABCG5, ABCG8, ACTN1, MYSM1, PRKACG
Familial macrothrombocytopenia AD TUBB1, ITGA2/ITGB3
Stormorken syndrome (thrombocytopenia with AD STIM1
anemia)
AD, Autosomal dominant; AR, autosomal recessive; IBMFSs, inherited bone marrow failure syndromes; UK, unknown; WHIM, warts, hypogammaglobulinemia, infections,
and myelokathexis; X-L, X-linked recessive.
Modified from Dror Y: Inherited bone marrow failure syndromes: Genetic complexity of monogenic disorders. In Genetic disorders. InTech Open Access Publisher.
Available at http://www.intechweb.org.

Fig. 29.1 CLASSIC PHENOTYPE OF FANCONI ANEMIA. The patient has pigmentary changes around
the neck, shoulders, and trunk; short stature; absent radii and absent thumbs bilaterally; microcephaly; and
low-set ears.

basis of somatic cell hybridization or retroviral transduction experi- FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE,
ments, while others by targeted gene testing or exome sequencing. FANCF, FANCG, FANCI, FANCJ/BACH1/BRIP1, FANCL,
The identification of complementation groups facilitated the FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4,
cloning of the corresponding FA or FANC genes (see Table 29.1). FANCQ/ECCR4, FANCR/EXCC2, and FANCS/BRCA1.
The first gene, FANCC on chromosome 9q22.3, was discovered in Of patients tested, up to 70% have mutant FANCA, 14% FANCC,
1992 in Toronto, and then the other genes, corresponding to each 10% FANCG, 3% FANCD1, 3% FANCD2, 3% FANCE, and 2%
of the other complementation groups, were subsequently cloned: or less for the others. Until recently, the most commonly used genetic