Skip to main content

Table 2 Nine regions defined by the breakpoints of reported interstitial deletions with annotated OMIM genes and potential phenotype map

From: Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

Region

Start (bp)

End (bp)

Cases involved*

Reported phenotypes**

OMIM genes

R1

2090000

4050000

1

Highly arched palate, short neck, posteriorly rotated ears

GMDS, WRNIP1, SERPINB1, SERPINB9, SERPINB6, NQO2, RIPK1, BPHL, TUBB2A, TUBB2B, SLC22A23, FAM50B, PRPF4B

R2

4050001

4745144

1,2

Blue sclera

CDYL

R3

4745145

5968242

P,1,2

Umbilical hernia

CDYL, RPP40, LYRM4, FARS2

R4

5968243

6100000

P, 1, 2, 4

Motor development delay***, broad nasal bridge

NRN1,

R5

6100001

8330000

P, 1, 2, 3, 4

Pectus excavatum***, hemangioma***, cardiac anomalies***, hypotonia, hypertelorism***, low set ears***, hair abnormalities***, long fingers, mild joint hypermobility,

F13A1, LY86, RREB1, SSR1, CAGE1, DSP, BMP6, BLOC1S5, EEF1E1

R6

8330001

8882919

P, 2, 3, 4

Micrognathia/retrognathia

SLC35B3, HULC

R7

8882920

9910000

P, 2, 3

Cardiac anomalies, flat nose, bilateral cleft lip***, overlapping toes

OFCC1

R8

9910001

10384769

P, 3

  

R9

10384770

10450000

3

Eye anomalies***

TFAP2A

  1. *P: the present case; 1 and 2: Mirza et al. case 5 and case 6; 3: Davies et al.; 4: Kuipers et al. case 2 [7, 14, 21]; **phenotypes were mapped by co-existence with the deletion region; ***phenotypes were also mapped by association with the known functions of the gene(s) in the deletion region