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Table 2 Shown are five different copy number variants (CNV) that were identified in four Turkish patients with type I MRKH

From: Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Patient

CNV Location

Size/Type

Coordinates

# times in DGV

# times in Decipher

Genes in CNV

6

16p11.2

746 kb Del

29,432,212–30,177,916

6 (125)

0 (10)

39

Xq25

768 kb Del

126,937,856–127,706,114

8 (17)

0 (0)

1 (ACTRT1)

7

16p13.3

243 kb Del

6,774,500–7,017,793

Multiple (131)

Multiple [25]

1(RBFOX1)*

8

13q14.11

116 kb Dup

41,178,626–41,294,741

1 (12)

0 (0)

1 (FOXO1)

9

1p31.1

263 kb Dup

76,357,590–76,620,268

0 (19)

0 (0)

3 (ST6GALNAC3, MSH4, ASB17)

  1. DGV Database of Genomic Variants, Del deletion, Dup duplication. The number of times a very similar sized CNV is listed for both DGV and Decipher. In parentheses, shown is the number of times a CNV of any size overlapped any portion of our CNV region
  2. *RBFOX1 is a gene known in relation to autism. Only patient number 6 had parents who were not consanguineous (4th degree relatives). Patient numbers 7 and 8 had parents that were 3rd degree relatives, while patient 9 had parents that were 2nd degree relatives