Table 3.
Previously Published Genotypes and Phenotypes of Study Patients in Comparison to the Genotype and Phenotypes Found in the Literature
| Characteristic | Patient(s) Affected | Phenotype | Novel? | Similar Genotype? | Published Patient 1 | Published Patient 2 | Published Patient 3 |
|---|---|---|---|---|---|---|---|
| CLN3 | |||||||
| c.884A>G p.Glu295Gly | I (homozygous) | Visual symptoms onset age 16 as nyctalopia, diagnosed with RP, BCVA 0.7 and 1.0; now age 33 without neurologic involvement | Yes | Yes | Patient c.883G>A;p.(Glu295Lys) heterozygous in combination with 1.02-kb deletion; protracted systemic disease; visual symptoms age 6, blind age 14, neurologic symptoms age 20 (panic attacks), seizures age 37, died age 39 (Aberg et al.3) | Siblings c.883G>A;p.(Glu295Lys) heterozygous in combination with 1.02-kb deletion; protracted systemic disease; visual symptoms onset at age 5 and 5, blind age 12 and 13; sibling 1, neurologic symptoms age 45, seizures age 50, died age 51; sibling 2, age 39, no neurologic symptoms (Wisniewski et al.4) | Patient c.883G>A;p.(Glu295Lys) heterozygous in combination with 1.02-kb deletion; protracted systemic disease; visual symptoms age 6, blind age 13; neurologic symptoms age 19 (panic attacks), now age 30 with polyneuropathy (Lauronen et al.5) |
| MFSD8 | |||||||
| c.863+2dup | VI (heterozygous) | Patient heterozygous in combination with c.1361T>C;p.(Met454Thr); visual symptoms onset age 19 as nyctalopia and tunnel vision, diagnosed with RP; now age 63 without neurologic involvement | Yes | Yes | Patient homozygous for c.863+1G>C splice cite variant; diagnosed with vLINCL; motor symptoms onset age 2 years, seizures age 3 (Kousi et al.12) | Patient heterozygous c.863+3_4insT splice cite variant in combination with c.154G>A;p.(Gly52Arg); diagnosed with vLINCL; motor symptoms onset age 3 years, seizures age 4 (Aiello et al.34) | Patient heterozygous c.863+3_4insT splice cite variant in combination with c.2T>C;p.(Met1Thr); diagnosed with vLINCL; motor symptoms onset age 5 years, seizures age 7 (Aiello et al.34) |
| CLN8 | |||||||
| c.509C>G p.Thr170Arg | IX–X (heterozygous) | Siblings heterozygous in combination with c.779C>T;p.(Pro260Leu); visual symptoms onset age 37 and 32 as nyctalopia; now age 41 and 34 without neurologic involvement | Yes | Yes | Siblings homozygous for c.509C>T;p.(Thr170Met); symptoms onset age 4 and age 8 with isolated neurologic symptoms without vision problems (Mitchell et al.33) | NA | NA |
| c.779C>T p.Pro260Leu | IX–X (heterozygous) | Siblings heterozygous in combination with c.509C>G;p.(Thr170Arg); visual symptoms onset age 37 and 32 as nyctalopia; now age 41 and 34 without neurologic involvement | Yes | No | NA | NA | NA |
| GRN | |||||||
| c.767_768insCC p.Ile256ThrfsTer28 | XI (homozygous) | Neurologic symptoms onset age 16 as seizures; visual symptoms onset age 19 as nyctalopia and tunnel vision; age 22 difficulty walking; diagnosed with CLN11 | Yes | Yes | Patient homozygous for c.768_769dup;p.(Gln257frameshift); neurologic symptoms onset age 21, seizures at age 25; eye exam unable due to poor cooperation (Faber et al.11) | Patient homozygous for c.768_769dup;p.(Gln257frameshift); neurologic symptoms onset age 16 as seizures; age 19 diagnosed with RP for significant visual loss; myoclonus age 26, died age 27 (Huin et al.32) |