Skip to main content
. 2011 Nov 2;20(4):389–397. doi: 10.1038/ejhg.2011.203

Table 1. Sequence variants identified in all examined genes within family KTCN-014 and other 14 Ecuadorian families.

          KTCN-014    
          Affected Unaffected Unknown All Affected from other Frequency in control
Location   Chromosome   Residue n=10 n=11 n=2 n=23 14 families group
in gene rsID position Polymorphism change no. % no. % no. % no. % n=28 n=105
(a) Segregated sequence variants
IPO5 (NM_00227)
 Int 22 *rs145089138 98667650 c.2380-134A>C — 10 100.0 1 9.1 1 50.0 12 52.2 2 5
                             
STK24 (NM_001032296)
Int 8 *rs185799292 99113999 c.1053+29G>C — 10 100.0 1 9.1 1 50.0 12 52.2 0 1
                             
DOCK9NM_015296
Int 7 rs7995432 99573165 c.720+43A>G — 10 100.0 1 9.1 1 50.0 12 52.2 4 3
Ex 20 *rs191047852 99537963 c.2262A>C Gln754His 10 100.0 1 9.1 1 50.0 12 52.2 0 0
                             
(b) Other sequence variants
          KTCN-014  
                  Affected
    Chromosome     Affected Unaffected Unknown All from other
Ex
 rsID
 position
 Polymorphism
 change
 no.
 %
 no.
 %
 no.
 %
 no.
 %
 14 families
MBNL2 (NM_144778)
  rs71640253 98046007 c.*2417G>C — 0/8 — 2/8 25.0 1/1 100.0 3/17 17.65 0/28
                           
IPO5 (NM_00227)
  rs12866550 98621940 c.-58-37C>T — 1/10 10.0 1/11 9.1 0/2 0.0 2/23 8.7 0/28
  rs57918250 98622187 c.50+103A>C — 3/10 30.0 4/11 36.4 1/2 50.0 8/23 34.8 0/28
  *rs182994654 98634738 c.145-30delT — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 1/28
  rs67901179 98637918 c.418+51delT — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 1/28
  rs60936969 98637931 c.418+64T>A — 2/10 20.0 4/11 36.4 1/2 50.0 7/23 30.4 0/28
  rs71691591 98641224 c.419-92_419-91insT — 1/10 10.0 1/11 9.1 0/2 0.0 2/23 8.7 0/28
 10 rs626716 98645253 c.831A>G Leu277Leu 1/10 10.0 1/11 9.1 0/2 0.0 2/23 8.7 0/28
  rs56411106 98645580 c.967+101G>A — 3/10 30.0 4/11 36.4 1/2 50.0 8/23 34.8 0/28
  rs568379 98649740 c.968-45A>C — 1/10 10.0 0/11 0.0 1/2 50.0 2/23 8.7 0/28
 12 *rs148018572 98649798 c.981A>G Leu309Leu 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 0/28
 14 rs61970445 98654675 c.1163-46G>A — 0/10 0.0 1/11 9.1 1/2 50.0 2/23 8.7 0/28
  rs633161 98658358 c.1552-26G>A — 4/10 40.0 5/11 45.5 1/2 50.0 10/23 43.5 0/28
  *rs182775158 98658611 c.1770+9delTinsTTT — 4/10 40.0 4/11 36.4 1/2 50.0 9/23 39.1 1/28
  *rs187432167 98658611 c.1770+9delTinsTTTTTTTTTTTTT — 2/10 20.0 3/11 27.3 1/2 50.0 6/23 26.1 0/28
  rs60926058 98658611 c.1770+44delTinsTTTTTTTTTT — 3/10 30.0 3/11 27.3 0/2 0.0 6/23 26.1 0/28
  rs66999519 98658646 c.1770+44delTinsTTTTTTTTTTTTTTTT — 1/10 10.0 1/11 9.1 0/2 0.0 2/23 8.7 0/28
  *rs192955800 98666535 c.2379+67delA — 10/10 100.0 11/11 100.0 1/2 50.0 22/23 95.7 1/28
  rs6491395 98666549 c.2379+81T>C — 4/10 40.0 3/11 27.3 1/2 50.0 8/23 34.8 0/28
  rs74108123 98672084 c.3119+21C>T — 1/10 10.0 1/11 9.1 0/2 0.0 2/23 8.7 0/28
  rs17190392 98675951 c.*1875A>G — 3/10 30.0 4/11 36.4 1/2 50.0 8/23 34.8 0/28
                           
RNF113B (NM_178861)
 1 rs16955011 98829217 c.274G>A Val92Met 0/10 0.0 1/11 9.1 1/2 50.0 2/23 8.7 5/18
 2 rs628778 98829176 c.315A>G Pro105Pro 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 16/18
  — 98828260 A > T — 5/5 100.0 2/2 100.0 — — 7/16 100.0 20/22
                           
FARP1 (NM_005766)
  *rs184165272 99037862 c.612-59T>C — 4/9 44.4 9/11 81.8 1/1 100.0 14/21 66.7 9/28
  rs584800 99038087 c.759+19C>T — 4/9 44.4 9/11 81.8 1/1 100.0 14/21 66.7 9/28
  rs2256823 99042390 c.1019+16T>C — 4/9 44.4 8/9 88.9 1/1 100.0 13/19 68.4 9/28
  rs673069 99045993 c.1164+21A>G — 1/9 11.1 1/11 9.1 0/2 0.0 2/22 9.1 0/22
  rs2291175 99062978 c.1603-10G>T — 0/7 0.0 1/10 10.0 0/1 50.0 1/18 5.6 4/28
  rs2291174 99063113 c.1692+36A>G — 1/7 14.3 2/10 20.0 0/1 50.0 3/18 16.7 1/28
  rs2146998 99093094 c.2796+4T>C — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 2/28
  rs2274053 99098318 c.2797-34C>T — 8/8 100.0 5/8 62.5 1/1 100.0 14/17 82.4 17/28
  rs2274054 99098470 c.2904+11C>T — 8/8 100.0 5/8 62.5 1/1 100.0 14/17 82.4 17/28
  rs2281766 99098882 c.2905-38A>C — 7/8 100.0 6/9 66.7 — — 13/16 81.3 9/28
  rs9517310 99100474 c.3057-16C>T — 0/7 0.0 2/8 25.0 1/1 100.0 3/16 18.8 12/28
 27 rs12261 99100547 c.3114T>C Ser1038Ser 7/7 100.0 5/7 71.4 1/1 100.0 13/15 86.7 14/28
  rs9168 99101583 c.*1012C>A — 2/10 20.0 3/10 30.0 1/2 50.0 6/22 27.3 12/22
  rs4584 99101869 c.*1298G>C — 2/10 20.0 3/11 27.3 1/1 100.0 6/22 27.3 12/22
STK24 (NM_001032296)
  rs2274056 99134839 c.274-264C>G — 6/10 60.0 9/11 81.8 1/2 50.0 16/23 69.6 —
  rs9513431 99134626 c.274-51T>A — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs34520150 99134321 c.330+198delT — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 —
  rs2274055 99127496 c.439+8G>A — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs9513430 99127252 c.440-20G>C — 3/10 30.0 4/11 36.4 1/2 50.0 8/23 34.8 —
  rs9582232 99127052 c.597+23G>A — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs9584854 99118590 c.783+40G>A — 2/10 20.0 3/11 27.3 1/2 50.0 6/23 26.1 —
  rs2296149 99115927 c.929+18T>C — 10/10 100.0 7/11 63.6 2/2 100.0 19/23 82.6 —
  rs56325686 99115853 c.929+92delT — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 —
  rs79337588 99115853 c.929+92_929+93delTT — 10/10 100.0 11/11 100.0 2/2 100.0 24/23 100.0 —
  *rs189489251 99112809 c.1054-115C > T — 0/10 0.0 1/11 9.1 0/2 0.0 1/23 4.3 —
  rs62827661 99112755 c.1054-61A>G — 10/10 100.0 7/11 63.6 2/2 100.0 19/23 82.6 —
  rs4772083 99112754 c.1054-60A>C — 10/10 100.0 7/11 63.6 2/2 100.0 19/23 82.6 —
 9 rs4771305 99112680 c.1068A>G Pro356Pro 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 —
  rs35458785 99112469 c.1122+156_1122+157ins7 — 10/10 100.0 7/11 63.6 2/2 100.0 19/23 82.6 —
  rs35880343 99109720 c.1123-162delA — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 —
  rs2031237 99109319 c.1259+103G>A c.1259+103G>T — 3/10 30.0 4/11 36.4 1/2 50.0 8/23 34.8 —
  rs8481 99105395 c.*32C>T — 2/10 20.0 3/11 27.3 1/2 50.0 6/23 26.1 —
  rs12463 99105302 c.*125C>T — 2/10 20.0 3/11 27.3 1/2 50.0 6/23 26.1 —
  rs6956 99104689 c.*738A>G — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs3742134 99104170 c.*1257G>A — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs7988959 99104004 c.*1423A>G — 2/10 20.0 2/11 18.2 1/2 50.0 5/23 21.7 —
  rs9517312 99103855 c.*1572C>T — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs7983438 99103317 c.*2110A>G — 2/10 20.0 2/11 18.2 1/2 50.0 5/23 21.7 —
  *rs193005274 99103260 c.*2167C>T — 2/10 20.0 1/11 9.1 0/2 0.0 3/23 13.0 —
  *rs184907551 99102688 c.*2739insT — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 —
  rs3742136 99102607 c.*2820G>A — 2/10 20.0 3/11 27.3 1/2 50.0 6/23 26.1 —
  rs3832885 99102478 c.*2949delG — 2/10 20.0 3/11 27.3 1/2 50.0 6/23 26.1 —
                           
DOCK9NM_015296
  rs12429249 99578219 c.337-46G>A — 0/10 0.0 2/11 18.2 1/2 50.0 3/23 13.0 3/21
 5 rs12428661 99575568 c.477C>T Val158Val 0/10 0.0 2/11 18.2 1/2 50.0 3/23 13.0 2/27
  rs2274643 99540500 c.1981-23T>C — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 23/28
  rs1928104 99540395 c.2046+17T>C — 10/10 100.0 11/11 100.0 2/2 100.0 23/23 100.0 25/28
  rs3737021 99540394 c.2046+18A>G — 0/10 0.0 2/11 18.2 1/2 50.0 3/23 13.0 3/28
  rs2274642 99537217 c.2385+8C>A — 9/9 100.0 10/10 100.0 1/2 50.0 20/21 95.2 24/27
  rs2274641 99537202 c.2385+23G>T — 9/9 100.0 10/10 100.0 1/2 50.0 20/21 95.2 11/27
  rs9517474 99536031 c.2472+36C>T — 9/9 100.0 10/10 100.0 1/2 50.0 20/21 95.2 25/28
  rs2296994 99533897 c.2679-16C>T — 0/10 0.0 2/10 20.0 1/2 50.0 3/22 13.6 3/27
  *rs143064488 99520441 c.3093+44T>C — 0/10 0.0 1/10 10.0 0/2 0.0 1/22 4.5 5/28
  rs9513497 99505632 c.3949+30G>A — 6/10 60.0 11/11 100.0 2/2 100.0 19/23 82.6 21/28
  *rs141854302 99502398 c.3950-31T>C — 1/10 10.0 2/11 18.2 0/2 0.0 3/23 13.0 0/28
  rs2296990 99502260 c.4016+41C>T — 0/10 0.0 2/11 18.2 1/2 50.0 3/23 13.0 2/28
  rs9517459 99482030 c.4570-20C>G — 0/10 0.0 2/11 18.2 1/2 50.0 3/23 13.0 6/28
 44 rs17709314 99479139 c.4902A>G Ala1633Ala 1/10 10.0 0/11 0.0 0/2 0.0 1/23 4.3 0/28
  rs2282134 99462593 c.5131-48G>A — 9/10 90.0 7/11 63.6 2/2 100.0 18/23 78.3 6/28
  rs9557078 99459891 c.5559+24T>G — 10/10 100.0 8/11 72.7 2/2 100.0 20/23 87.0 10/28
 51 rs2296984 99457431 c.5592A>C Ala1863Ala 1/10 10.0 0/11 0.0 0/2 0.0 1/23 4.3 4/28
  rs9554522 99448441 c.6209+19A>T — 4/10 40.0 7/11 63.6 2/2 100.0 13/23 56.5 7/28
                           
ZIC5NM_033132
 1 *rs186203798 100622892 c:1036G>A Gly346Gly 2/7 28.6 1/6 16.7 0/2 0.0 15/23 20.0 0/5
                           
ZIC2NM_007129
 1 *rs189469383 100634531 c.213A>G Pro71Pro 0/10 0.0 1/11 9.1 0/2 0.0 1/23 4.3 0/5

*rs represent a novel variants submitted by our team and released on NCBI dbSNP Build 135 for Human 10/13/2011.