TABLE 1.
DNAH5 MUTATIONS IN PRIMARY CILIARY DYSKINESIA
| Family | Patient | Origin | Exon | DNA Change | Protein Change | ODA Defect | Segregation |
|---|---|---|---|---|---|---|---|
| Homozygous | |||||||
| OP36 | II1 | Germany | [36]+[36] | [6037C>T] | [R2013X] | n.a | P + M |
| UNC47 | II1 | United States | [63]+[63] | [10815delT] | [P3606HfsX23] | EM | n.d. + M |
| UNCB | II1 | United States | [63]+[63] | [10815delT] | [P3606HfsX23] | EM | n.d. |
| UNC83 | II1 | United States | [77]+[77] | [13458_13459insT] | [N4487fsX1] | EM | n.d. |
| Compound | |||||||
| UNC29 | II1 | United States | [3]+[63] | [232C>T]+[10815delT] | [R78X]+[P3606HfsX23] | EM + IF | P + M |
| UNC59 | II1 | United States | [7]+[12] | [832delG]+[1627C>T] | [A278RfsX27]+[Q543X] | EM | P + M |
| OP54 | II1 | Switzerland | [17]+[48] | [IVS17+2T>C]+[7914_7915insA] | splicing-mut.+[R2639TfsX19] | EM + IF | P + M |
| UNC45 | II1 | United States | [25]+[77] | [3905delT]+[13458_13459insT] | [L1302RfsX19]+[N4487fsX1] | EM | M + P |
| OP31 | II1 | Germany | [27]+[34] | [IVS27+1G>A]+[5563_5564insA] | splicing-mut.+[I1855NfsX6] | IF | P + M |
| OP40 | II1 | Germany | [32]+[77] | [5147G>T]+[13458_13459insT] | [R1716L]+[N4487fsX1] | IF | M + n.d. |
| UNC72 | II1 | United States | [33]+[34] | [5281C>T]+[5563_5564insA] | [R1761X]+[I1855NfsX6] | EM | n.d. |
| UNC34 | II1 | United States | [33]+[60] | [5482C>T]+[10226G>C] | [Q1828X]+[W3409S] | EM | P + M |
| OP19 | III1 | Germany | [34]+[63] | [5599_5600insC]+[10815delT] | [L1867PfsX35]+[P3606HfsX23] | n.a. | P + M |
| UNC76 | II1 | United States | [34]+[76] | [5563_5564insA]+[IVS76+5G>A] | [I1855NfsX6]+splicing-mut. | EM | n.d. |
| OP51 | II1,II2 | Switzerland | [41]+[76] | [6791G>A]+[13194_13197delCAGA] | [S2264N]+[D4398EfsX16] | EM + IF | M + n.d. |
| UNC32 | II1 | United States | [43]+[45] | [7039G>A]+[7502G>C] | [E2347K]+[R2501P] | EM | n.d. |
| F668 | II1 | Germany | [49]+[49] | [8029C>T]+[8167C>T] | [R2677X]+[Q2723X] | n.a. | P + M |
| UNC31 | II1,II2 | United States | [50]+[77] | [8404C>T]+[13426C>T] | [Q2802X]+[R4476X] | EM | M + n.d |
| UNC35 | II1 | United States | [51]+[63] | [8528T>C]+[10815delT] | [F2843S]+[P3606HfsX23] | EM + IF | M + n.d. |
| UNC102 | II1,II2,II3 | United States | [63]+[77] | [10815delT]+[13486C>T] | [P3606HfsX23]+[R4496X] | EM | P + M |
| UNC74 | II1 | United States | [63]+[77] | [10815delT]+[13458_13459insT] | [P3606HfsX23]+[N4487fsX1] | EM | M + n.d. |
| F718 | II1 | Germany | [76]+[76] | [IVS75–2A>T]+[IVS76+5G>A] | splicing-mut.+splicing-mut. | IF | n.d. + M |
| Heterozygous | |||||||
| UNC81 | II1 | United States | [3]+n.d. | [252T>G)+n.d. | [Y84X]+n.d. | EM | n.d. |
| UNCK | II1 | United States | [11]+n.d. | [1426_1427delTT]+n.d. | [F476SfsX26]+n.d. | EM | n.d. |
| UNC75 | II1 | United States | [13]+n.d. | [1730G>C]+n.d. | splicing-mut.+n.d. | EM | P |
| OP9 | II1 | Hungary | [50]+n.d. | [8440_8447delGAACCAAA]+n.d. | [E2814fsX1]+n.d. | EM + IF | P |
| CH-6475 | II1 | Switzerland | [50]+n.d. | [8314C>T]+n.d. | [R2772X]+n.d. | n.a. | n.d. |
| UNC48 | II1 | United States | [51]+n.d. | [8528T>C]+n.d. | [F2843S]+n.d. | EM | M |
| OP3 | II1 | Germany | [67]+n.d. | [11528C>T]+n.d. | [S3843L]+n.d. | n.a. | n.d. |
| UNC87 | II1 | United States | [73]+n.d. | [12614G>T]+n.d. | [G4205V]+n.d. | EM | M |
Definition of abbreviations: EM = electron microscopy; IF = immunofluorescence; M = maternal; mut. = mutation; n.a. = not available; n.d. = not determined; ODA = outer dynein arm; P = paternal.