Table 1

Alu insertions in human disease

Locus

Chromosome

Subfamily

Disease

Reference^a

3 × HEMB (IX)

X

Ya5, Ya5, Yb8

Hemophilia B

[23,56]

2 × HEMA (VIII)

X

Yb8, Yb9

Hemophilia A

[23,56]

2 × CLCN5

X

Ya6, Ya5

Dent's disease

[23,56]

2 × BTK

X

Y, Y

X-linked agammaglobulinemia

[23,56]

IL2RG

X

Ya5

X-linked severe combined immunodeficiency disease

[23,56]

GK

X

Yc1

Glycerol kinase deficiency

[23,56]

CD40LG

X

Yb8

Hyper IgM syndrome

[23,56]

ATP7A

X

Ya5a2

Menkes disease

[23,56]

CRB1

1

Y

Retinitis pigmentosa

[23,56]

ZFHX1B

2

Ya5

Mowat-Wilson syndrome

[23,56]

BCHE

3

Yb8

Cholinesterase deficiency

[23,56]

OPA1

3

Yb8

Autosomal dominant optic atrophy

[89]

CASR

3

Ya4

Hypocalciuric hypercalcemia and hyperparathyroidism

[23,56]

MLVI2

5

Ya5

Associated with leukemia

[23,56]

APC

5

Yb8

Hereditary desmoid disease

[23,56]

P5N1

7

Ya5

Chronic hemolytic anemia

[23,56]

EYA1

8

Y

Branchio-oto-renal syndrome

[23,56]

LPL

8

Yb9

Lipoprotein lipase deficiency

[23,56]

POMT1

9

Ya5

Walker Warburg syndrome

[23,56]

3 × FGFR2

10

Ya5, Yb8, Yc1

Apert's syndrome

[23,56]

TNFRSF6

10

Yb8

Autoimmune lymphoproliferative syndrome

[23,56]

C1NH

11

Yc1

Complement deficiency

[23,56]

AIP

11

Ya5

Acute intermittent porphyria

[23,56]

GNPTAB

12

Y

Mucolipidosis

[90]

3 × BRCA2

13

Ya5, Yc1, Y

Breast cancer

[91]

PMM2

16

Yb8

Congenital disorder of glycosylation type I

[92]

BRCA1

17

Ya5

Breast cancer

[23,56]

15 × NF1

17

Y subfamilies

Neurofibromatosis

[23,56,57]

Deininger Genome Biology 2011 12:236   doi:10.1186/gb-2011-12-12-236