Figure 1.

Family pedigree: ancestry is Sephardic and Ashkenazim Syrian Jewish. Affected probands (confirmed to be homozygous for V669L/ V669L in VAC14) are marked with black-filled symbols. Carriers (verified by sequencing to be heterozygous WT/V669L in VAC14) are marked with a dot in the symbol. Proband 1: age 21, male, developmental delays, spastic paraplegia, RP, basal ganglia anomaly, speech problems, premature birth at 34 wk. Sibling 2: age 20, female; sibling 3: age 18, female; sibling 4: age 20, male; sibling 5: age 14, female; sibling 6 (Proband 2): age 4, mild developmental delays, hypotonia, nondysmorphic, RP; mother: age 44, clubfoot, abnormal fingers and toes, bruises easily, with five siblings: female age 40, female age 31 (has child with craniosynostosis), brother age 38, brother age 39, sister age 31 with clubfoot, hydrocephalus s/p shunt, abnormal finger and toe formation; father: age 51; the ages of the paternal siblings are not known. Parents are second cousins once removed. Consanguinity in the pedigree, as maternal grandparents are first cousins. History of night blindness with the paternal uncle and paternal great uncle of the probands (marked with cross-hatching in the pedigree).