Table 2 Detailed comparison of the phenotype, the deleted region and the genes included in the probands and female carriers in the reported kindreds
Kindred | Phenotype of male patients | Phenotype of female carriers | Deleted region in Chr X | Refered OMIM genes | Reference |
|---|---|---|---|---|---|
XL-45 | Choroideremia, mental retardation, deafness | Retinal changes of choroiderenia | Between DXS232 and DXS95 (fine mapping) DXS232 and DXS95 DXS232 and DXS95 | Not reported | Ayazi,1981 Nussbaum,1987 |
XL-62 | Choroideremia, short stature, mental retardation, deafness | Mild high frequency sensorineural hearing loss (seen in only one out of four) | Between DXS72 and DXS214 (fine mapping) DXS232 and DXS95 DXS232 and DXS95 | Not reported | Nussbaum, 1987 |
SV-08-20 | Severe bilateral hearing loss, central hypotonia, developmental delay, mild mental retardation, vesicoureteral reflux | Mild high-tone hearing loss | 16 Mb Xq21 (estimated by PCR) | POU3F4, CHM | Song, 2010 |
Present case | Choroideremia, mental retardation, hearing impairments, cochlea deformity, facial anomalies | Normal | 8.05 Mb Xq21 Chr X: (80,817,978-88,868,979) | CHM, POU3F4, ZNF711, POF1b | - |