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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