Table 2 SNPs within BMP2/4/7 identified by sequencing of 19 subjects with congenital combined pituitary hormone insufficiency

BMP2 (ENST00000378827, NM_001200.2)

5′-UTR

Exon 1^#

rs35123420

C = 0.040

G/C

C = 0.026

Exon 1

rs141364472

n.a.

G/A

A = 0.026

Exon 2

rs2273073

G = 0.028

T/G

p.Ser37Ala

G = 0.026

coding

Exon 2

rs1049007

A = 0.250

G/A

synonymous

A = 0.342

region

Exon 3

rs235768

A = 0.240

T/A

p.Arg190Ser

A = 0.342

Exon 3

rs13037675

T = 0.046

C/T

synonymous

T = 0.026

Exon 3

rs15705

C = 0.280

A/C

C = 0.368

3′-UTR

Exon 3

rs3178250

C = 0.264

T/C

C = 0.368

Exon 3

rs235769

A = 0.234

G/A

A = 0.368

Exon 3

rs170986

A = 0.162

C/A

A = 0.053

BMP4 (ENST00000245451, NM_001202.3)

5′-UTR

Intron 2

rs2855532

T = 0.427

C/T

T = 0.342

Intron 2

rs2761880

T = 0.221

C/T

T = 0.053

coding

Exon 4

rs17563

C = 0.373

C/T

p.Val152Ala

T = 0.447

region

Exon 4

c.899G > C

G/C

p.Arg300Pro

C = 0.026

BMP7 (ENST00000395863, NM_001719.2)

Exon 2

rs41274738

T = 0.018

C/T

synonymous

T = 0.026

Intron 2*

rs192121279

n.a.

G/A

p.Thr105Met

A = 0.026

Intron 2*

rs6070031

T = 0.281

C/T

T = 0.421

Intron 2

c.611 + 3366C > T

C/T

T = 0.026

coding

Exon 4

rs61733436

T = 0.005

C/T

synonymous

T = 0.026

region

Intron 4

rs6014948

T = 0.069

C/T

T = 0.053

Intron 4

rs6070008

T = 0.466

A/T

T = 0.421

Exon 5

rs61733438

C = 0.005

T/C

p.Asn321Ser

C = 0.026

Intron 6^$

rs2148328

A = 0.466

A/G

p.Ala399Gly

G = 0.474

Intron 7

rs10375

C = 0.484

C/T

T = 0.447

Intron 7

rs151255710

n.a.

A/G

G = 0.026

Intron 7

rs17480735

A = 0.051

G/A

A = 0.105

Intron 7

rs6025418

G = 0.479

A/G

G = 0.447

3′-UTR

Intron 7

rs6025417

C = 0.478

G/C

C = 0.447

Intron 7

rs6025416

C = 0.452

T/C

C = 0.447

Intron 7

rs6014947

T = 0.460

C/T

T = 0.474

Intron 7

rs6025415

C = 0.478

G/C

C = 0.473

Intron 7

rs6014946

C = 0.461

A/C

C = 0.473