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Table 2 Detailed comparison of the phenotype, the deleted region and the genes included in the probands and female carriers in the reported kindreds

From: A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

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 -