Table 1

Characteristics of major inherited bone marrow failure syndrome.

Categories	Involved genes (estimated proportion^a))	Clinical and laboratory characteristics
Fanconi anemia	AR: FANCA (60%), FANCC (14%), BRCA2 (FANCD1) (3%), FANCD2 (3%), FANCE (3%), FANCF (2%), FANCG (XRCC9) (10%), FANCI (1%), BRIP1 (FANCJ) (2%), FANCL, FANCM, PALB2 (FANCN), RAD51C (FANCO), SLX4 (FANCP), ERCC4 (FANCQ, XPF), BRCA1 (FANCS), UBE2T (FANCT), XRCC2 (FANCU), MAD2L2 (FANCV, REV7), RFWD3 (FANCW) AD: RAD51 (FANCR) XLR: FANCB (2%)	Short stature, upper limb (radial ray) abnormalities, skin pigmentation (caféau lait macules), renal malformations, microcephaly May have features of VACTERL-H Pancytopenia, macrocytosis, elevated HbF, increased chromosome breakage
Dyskeratosis congenital (DC) and related telomere biology disorders	XLR: DKC1 (15–20%) AD: TINF2 (TIN2) (11–20%), TERC (5%), NAF1 AR: CTC1, NOP10, NHP2, WRAP53 (TCAB1), STN1, POT1 AD and AR: RTEL1 (5–10%), TERT (5%), ACD (TPP1), PARN	Classic triad of DC: nail dystrophy, oral leukoplakia, skin pigmentation Pulmonary fibrosis, liver disease Pancytopenia, macrocytosis, very short telomeres
Diamond-Blackfan anemia	AD: RPS19 (25%), RPL11 (6–7%), RPS26 (6%), RPS10 (2–3%), RPL35A (3%), RPS24 (2%), RPS17 (1%), RPL5, RPL15, RPL17, RPL19, RPL26, RPL31, RPS7, RPS19, RPS20, RPS28, RPS29 XLR: GATA1, TSR2	Cleft lip or palate, thumb abnormalities, cardiac malformations, short stature Anemia, macrocytosis, reticulocytopenia
Shwachman-Diamond syndrome	AR: SBDS (95%), DNAJC21, EFL1 AD: SRP54	Exocrine pancreatic insufficiency, skeletal abnormalities Neutropenia, low serum isoamylase, low serum trypsinogen

^a)Estimated proportion of patients are not described for genes that are rarely involved.

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; VACTERL-H, vertebral anomalies, anal atresia, cardiac anomalies, tracheo-esophageal fistula, esophageal atresia, renal structural anomalies, upper limb anomalies, hydrocephalus; XLR, X-linked recessive.

Blood Res 2022;57:S86~S92 https://doi.org/10.5045/br.2022.2022056