Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases

Figures & data

Table I. Malignancies associated with variants in the 5ʹUTR sequence of ANKRD26.

Reference	Individual families by mutation	Number of affected patients in described families with a confirmed diagnosis of ANKRD26-RT with personal or family history of malignancy	Described malignancy developing in a participant with confirmed ANKRD26-RT	Malignancy described in a 1^st degree relative of the screened participant with ANKRD26-RT where the affected relative was unavailable to provide samples to confirm a diagnosis of ANKRD26-RT
[11], [21]	c.-118 C > A	N/A	-	Leukemia (undefined)
	c.-125 T > G	7	Acute Leukemia (5 x myeloid, 2x undefined)	-
	c.-125 T > G			-
	c.-127 A > T			Leukemia (undefined)
	c.-127 A > T			-
	c.-134 G > A			-
	c.-128 G > A	2	CML, MDS and CLL (MDS and CLL diagnosed in same patient)	-
	c.-127 A > T	1	CLL	-
[12]	c.-125 T > G	1	AML	-
[19]	c.-128 G > A	6	2 x AML	-
	c.-127 A > T	5	1x AML	-
	c.-127 A > T	4	MDS	-
	c.134 G > C	4	CML	-
[20]	c.-128 G > A	1	Multiple myeloma	-
[22]	c.-127 A > T	1	CML	N/A
[23]	c.-116 C > T	1	CMML	-
[24]	c.-140 C > G	1	-	Prostate Ca
	c.-140 C > G	1	Renal Ca	-
	c.-128 G > A	1	-	AML
	c.-140 C > G	1	Breast Ca	-
	c.-140 C > G	1	AML	-
[25]	c.-118 C > T	2	MDS/AML (2 individuals with MDS/AML)	1 additional relatives with MDS/AML
[26]	c.-118 C > T	1	-	Leukemia (undefined)
[27]	c.-118 C > T	1	-	Leukemia (undefined)

Figure 1. (a) Schematic structure of 5ʹUTR of ANKRD26 mapping single point variants currently identified in the literature. (b) General structure of ANKRD26 protein [36].

Table II. A summary of point mutations in the 5’ untranslated region of the ANKRD26 gene as reported in the literature. Mean averages reported where data available and ranges and number of individuals accounted for are in brackets.

5’ UTR mutation	Number of families	Number of patients	Mean platelet count (x10^9/L)	Mean MPV (fl)	Mean Hb (g/L)	Mean WBC (x10^9/L)	Mean TPO (pg/mL)	Reference
c.-113A>C	1	3	85 (23–176) (n = 3)	11.43 (11–12.1) (n = 3)	12.53 (11.9–13.2) (n = 3)	3.9 (2.71–5.6) (n = 3)	-	[11]
c.-116C>A	1	1	82 (n = 1)	9.3 (n = 1)	13.5 (n = 1)	11.9 (n = 1)	-	[45]
c.-116C>G	1	3	70.6 (45–107) (n = 3)	9.55 (9.4–9.7) (n = 3)	12.85 (12.1–13.6) (n = 3)	11.7 (10.6–12.8) (n = 3)	-	[10]
c.-116C>T	3	10	52.14 (36–74) (n = 7)	10.85 (10.5–11.2) (n = 2)	14.95 (13.9–16) (n = 2)	11.04 (6.08–16) (n = 2)	-	[9,11,16,23]
c.-118C>A	4	10	58.2 (15–100) (n = 10)	9.59 (8.68–10.5) (n = 10)	15.08 (12.3–16.3) (n = 10)	9 (6.8–12.6) (n = 6)	206 (132–280) (n = 2)	[10,11,22,42]
c.-118C>T	10	16	47.69 (7–73) (n = 13)	9.84 (7.7–11.6) (n = 12)	13.1 (10.4–15.3) (n = 10)	9.88 (5.61–17.5) (n = 7)	258.3 (39–497) (n = 4)	[9–11,25–27,42,46]
c.-118C>G	1	1	43 (n = 1)	11 (n = 1)	-	-	-	[26]
c.-119C>A	3	5	50.96 (36–81) (n = 5)	9.3 (6.2–11.3) (n = 5)	13.5 (12.2–14.2) (n = 5)	7 (4.7–9.6) (n = 4)	-	[10,11,42]
c.-121A>C	1	3	63 (28–87) (n = 3)	10.26 (10–10.8) (n = 3)	15.6 (12.8–17) (n = 3)	15.45 (11.6–21.33) (n = 3)	-	[11]
c.-125 T > G	6	12	28.25 (7–12) (n = 4)	7.98 (6.5–10.8) (n = 4)	15.45 (12–17.3) (n = 4)	10.45 (7–13.8) (n = 4)	190.2 (148.4–232) (n = 2)	[9,11,12,19,42]
c.-126 T > C	3	3	22.3 (19–27) (n = 3)	12.2 (n = 1)	14.35 (13.8–14.9) (n = 2)	5.5 (n = 1)	-	[45,47,48]
c.-126 T > G	2	4	36.74 (14–80) (n = 4)	9.98 (8.1–10.9) (n = 4)	15.67 (13.7–16.5) (n = 4)	8.88 (7.3–12.19) (n = 4)	-	[10,11]
c.-127A>G	3	13	93.29 (46–147) (n = 13)	8.39 (6.48–9.5) (n = 13)	15.3 (12.4–18.3) (n = 11)	8.69 (6.1–11.7) (n = 13)	-	[10,11]
c.-127A>T	14	54	44.78 (10–94) (n = 34)	9.98 (7.1–14.3) (n = 30)	14.12 (10.5–17.2) (n = 31)	8.71 (5.3–12.1) (n = 23)	165.5 (106–190) (n = 8)	[9–11,19,22,42]
c.-127delAT	2	10	51.86 (26–96) (n = 10)	10.21 (8.7–11) (n = 10)	14.28 (10.4–16.6) (n = 10)	7.96 (5.8–13.4) (n = 10)	140.25 (97–178) (n = 4)	[10,42]
c.-128 G > A	24	76	32.4 (5–75) (n = 51)	8.77 (6.3–11.6) (n = 31)	14.58 (10.2–18.4) (n = 49)	9.18 (5.1–21) (n = 44)	136.67 (104–191) (n = 3)	[9–11,19,20,24,30,42]
c.-128 G > C	2	4	38.75 (24–81) (n = 4)	9.95 (7.9–14) (n = 4)	13.48 (12–14.9) (n = 4)	9.35 (6.6–12.1) (n = 2)	185 (n = 1)	[10,22,42]
c.-128 G > T	2	13	36.92 (19–70) (n = 13)	9.73 (7.9–12.5) (n = 7)	12 (6.9–14.9) (n = 13)	9.64 (4.98–14.4) (n = 13)	163 (49.76–288.58) (n = 7)	[49,50]
c.-134 G > A	15	59	44.89 (7–106) (n = 45)	8.69 (5.7–11.1) (n = 44)	14.76 (10.5–17.8) (n = 43)	9.34 (5.10–16.4) (n = 31)	-	[9–11,18,24,42,46,51]
c.-134 G > C	2	7	-	-	-	-	-	[19]
c.-134 G > A and c.-140c>G	1	1	70 (n = 1)	9 (n = 1)	12 (n = 1)	-	-	[24]
c.-140C>G	6	9	91.78 (50–200) (n = 9)	9.56 (8–11.7) (n = 9)	12.73 (9.5–14.1) (n = 9)	-	-	[22,24]
Totals:	107	317

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