Figure 3. Characterization of a family
with X-linked retinitis pigmentosa and variable expressivity in
mutation carriers. A: Pedigree with three generations. Circles
represent females and squares represent males. Slashed symbols indicate
deceased family members. Filled black symbols denote family members
with retinitis pigmentosa (RP), and circles with a dot indicate female
mutation carriers who had no history of visual complaints. Horizontal
bars designate family members whose genotype was determined by
molecular genetic testing. Arrow marks the index patient 25085. The
mutation c.2405_2406delAG in exon ORF15 of RPGR segregates with
the disease in males, and shows variable heterozygote manifestation in
females. B: Fundus pictures of three affected family members
show typical pigmentations found in the peripheral retina of patients
with RP. Patient age and gender are provided below each fundus
photograph. C: Pattern of X-chromosome inactivation of selected
female family members. None showed a unilateral X-inactivation at the
AR-locus. The following abbreviations and symbols are used: control
nonrandom X-inactivation (C-nr), control random X-inactivation (C-r),
HpaII digestion (+), and no HpaII digestion (-).