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	-