Gene Symbol MFSD8
Gene ID 256471
Chromosomal Location 4q28.2
Genomic RefSeqGene NG_008657.1 55180 bp
Transcript RefSeq NM_152778.2 4562 bp
Protein RefSeq NP_689991.1 518 aa
No. patients 73
No. families 65
Additional Notes
                         
DB Patient ID Other Patient ID Allele 1 Allele 2 Nucleotide changes in same gene Nucleotide changes in other genes Phenotype Age at onset Histology Country of origin Country of Residence Reference PMID Notes  
Pa-cln7.033 1_Aiello_2009 p.Gly310Asp c.863+3_4insT vLINCL 6y FP/CL Italy Aiello et al., 2009 19177532
Pa-cln7.032 2_Aiello_2009 or 397Pa_Kousi_2009 p.Met209IlefsX3 p.Met209IlefsX3 vLINCL 4y FP/CL Italy Aiello et al., 2009                                       Kousi et al., 2009 19177532
Pa-cln7.034 3_Aiello_2009 p.Gly52Arg c.863+3_4insT vLINCL 3y FP/CL Italy Aiello et al., 2009 19177532
Pa-cln7.035 4_Aiello_2009 p.Glu381X p.Arg482X vLINCL 2y FP/CL Italy/France Aiello et al., 2009 19177532
Pa-cln7.036 5_Aiello_2009 c.863+1G>C c.863+1G>C vLINCL 2y FP/CL Italy Aiello et al., 2009 19177532
Pa-cln7.037 6_Aiello_2009 p.Met1Thr c.863+3_4insT vLINCL 5y FP/CL/GROD Italy Aiello et al., 2009 19177532
Pa-cln7.038 7_Aiello_2009 p.Pro447Leu p.Pro447Leu vLINCL 4.5y FP/CL Italy Aiello et al., 2009 19177532
Pa-cln7.039 8_Aiello_2009 p.Thr294Lys p.Thr294Lys vLINCL 2y FP/GROD Italy Aiello et al., 2009 19177532
Pa-cln7.040 9_Aiello_2009 p.Arg35X p.Arg35X vLINCL 5.5y FP/CL Italy Aiello et al., 2009 19177532
Pa-cln7.008 270_Kousi_2009 p.Arg35X p.Arg35X vLINCL 2.5y FP/CL Turkey Kousi et al., 2009 19201763
Pa-cln7.029 PP_Kousi_2009 p.Arg139His p.Arg139His vLINCL 2y9mo FP/CL/GROD India Kousi et al., 2009 19201763
Pa-cln7.030 475Pa_Kousi_2009 p.Ala157Pro p.Ala157Pro JNCL 11y n.a. The Netherlands Kousi et al., 2009 19201763
Pa-cln7.031 N3403_Kousi_2009 c.863+1G>C c.863+1G>C vLINCL 5y n.a. Turkey Kousi et al., 2009 19201763
Pa-cln7.009 N3703_Kousi_2009 p.Thr294Lys p.Thr294Lys   CLN5: p.Arg2Cys vLINCL 3.5y n.a. Turkey   Kousi et al., 2009 19201763 sibs
Pa-cln7.010 N3704_Kousi_2009 p.Thr294Lys p.Thr294Lys     vLINCL 4y n.a. Turkey   Kousi et al., 2009 19201763  
Pa-cln7.011 447Pa_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 4y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.012 367Pa_Kousi_2009 p.Thr294Lys p.Thr294Lys     vLINCL 2.5y FP/CL/RL Roma from the former Czechoslovakia   Kousi et al., 2009 19201763 sibs
Pa-cln7.013 367Pb_Kousi_2009 p.Thr294Lys p.Thr294Lys     vLINCL 3.5y FP/CL/RL Roma from the former Czechoslovakia   Kousi et al., 2009 19201763  
Pa-cln7.014 380Pa_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 2.5y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.015 427Pa_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 4y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.016 466Pa_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 3.5-4y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.017 6_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 2y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.018 7_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 5y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.019 8_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 4y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.020 9_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 4.5y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.021 10_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 1.5y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.022 12_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 2y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.023 14_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 2y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.024 15_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 2y FP/CL/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.025 18_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 3y n.a. Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln7.026 16_Kousi_2009 p.Thr294Lys p.Thr294Lys vLINCL 4y FP/CL/RL Czech Republic Kousi et al., 2009 19201763
Pa-cln7.028 11_Kousi_2009 c.754+2T>A c.1103-2delA vLINCL 3.5y FP/CL/RL Czech Republic Kousi et al., 2009 19201763
Pa-cln7.027 474Pa_Kousi_2009 p.Arg465Trp p.Arg465Trp vLINCL 4.5y FP/CL/RL Albania/Greece Kousi et al., 2009 19201763
Pa-cln7.041 V3_Stogmann_2009 p.Tyr121Cys p.Tyr121Cys     LINCL but no visual failure reported 5y n.a. Egypt   Stogmann et al., 2009 18850119 sibs
Pa-cln7.042 V4_Stogmann_2009 p.Tyr121Cys p.Tyr121Cys LINCL but no visual failure reported 5y n.a. Egypt Stogmann et al., 2009 18850119  
Pa-cln7.043 V5_Stogmann_2009 p.Tyr121Cys p.Tyr121Cys LINCL but no visual failure reported 5y n.a. Egypt Stogmann et al., 2009 18850119  
Pa-cln7.044 IV1_Aldahmesh_2009 p.Pro412Leu p.Pro412Leu     vLINCL 6y No inclusions Saudi Arabia   Aldahmesh et al., 2009 19277732 sibs
Pa-cln7.045 IV3_Aldahmesh_2009 p.Pro412Leu p.Pro412Leu vLINCL 7y No inclusions Saudi Arabia Aldahmesh et al., 2009 19277732  
Pa-cln7.046 IV4_Aldahmesh_2009 p.Pro412Leu p.Pro412Leu     vLINCL 7y No inclusions Saudi Arabia   Aldahmesh et al., 2009 19277732  
Pa-cln7.001 f3_Siintola_2007 or 22_Topcu_2004 p.Arg233Gly / splice defect p.Arg233Gly / splice defect vLINCL 3y FP Turkey Siintola et al., 2007                       Topcu et al., 2004 17564970
Pa-cln7.002 e3_Siintola _2007 or 17_Topcu_2004 c.754+2T>A c.754+2T>A     vLINCL 3y FP Turkey   Siintola et al., 2007                       Topcu et al., 2004 17564970 sibs
Pa-cln7.003 e5_Siintola_2007 c.754+2T>A c.754+2T>A   CLN5: p.Lys368Arg vLINCL 2.5y n.a.     Siintola et al., 2007 17564970  
Pa-cln7.004 j3_Siintola_2007 p.Tyr298X p.Tyr298X CLN5: p.Lys368Arg vLINCL 3y n.a. India Siintola et al., 2007 17564970
Pa-cln7.005 c3_Siintola_2007 or 25_Topcu_2004 p.Gly310Asp p.Gly310Asp vLINCL 6y FP Turkey Siintola et al., 2007                       Topcu et al., 2004 17564970
Pa-cln7.006 h3_Siintola_2007 p.Asp368His / splice defcet p.Asp368His / splice defcet CLN5: p.Arg2Cys; p.Trp75Arg vLINCL 3.5y No vacuoles Turkey Siintola et al., 2007 17564970
Pa-cln7.007 b3_Siintola_2007 or 24_Topcu_2004 p.Gly429Asp p.Gly429Asp vLINCL 5y FP Turkey Siintola et al., 2007                       Topcu et al., 2004 17564970
Pa-cln7.047 121-1602_Kousi_2011_novel c.63-4delC not identified LINCL n.a. FP Argentina Kousi et al, 2012 (Cismondi personal communication) 21990111
Pa-cln7.048 L39-031310_Kousi_2011_novel p.Thr294Lys p.Thr294Lys n.a. n.a. n.a. Spain Kousi et al, 2012 (Cismondi personal communication) 21990111
Pa-cln7.049 26-030312_Kousi_2011_novel p.Arg482X not identified LINCL n.a. FP Argentina Kousi et al, 2012 (Cismondi personal communication) 21990111
Pa-cln7.050 CZR34_Kousi_2011_novel p.Thr294Lys p.Thr294Lys n.a. n.a. n.a. Spain Kousi et al, 2012 (Elleder personal communication) 21990111
Pa-cln7.051 CZR52_Kousi_2011_novel c.754+2T>A c.754+2T>A n.a. n.a. n.a. Czech Republic Kousi et al, 2012 (Elleder personal communication) 21990111
Pa-cln7.052 CZR54_Kousi_2011_novel c.754+2T>A c.754+2T>A n.a. n.a. n.a. Czech Republic Kousi et al, 2012 (Elleder personal communication) 21990111
Pa-cln7.053 ITA10_Kousi_2011_novel c.554-1G>C p.Thr458Lys vLINCL n.a. FP Romania Kousi et al, 2012 (Santorelli personal communication) 21990111
Pa-cln7.054 N13703_Kousi_2011_novel p.Arg35X p.Arg35X n.a. 3y n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.055 N10403_Kousi_2011_novel p.Arg35X p.Thr160Ile LINCL n.a. n.a. Cook Islands Kousi et al, 2012 21990111
Pa-cln7.056 N8803_Kousi_2011_novel p.Thr160Asn p.Thr160Asn CLN5: p.Trp75Arg n.a. n.a. n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.057 N0803_Kousi_2011_novel c.754+1G>A c.754+1G>A n.a. n.a. n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.058 N11003_Kousi_2011_novel c.754+1G>A not identified n.a. 5y n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.059 N5003_Kousi_2011_novel c.754+2T>A p.Thr294Lys CLN5: p.Arg2Cys LINCL 3y n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.060 1_Kousi_2011_novel c.754+2T>A c.754+2T>A n.a. n.a. n.a. Czech Republic Kousi et al, 2012 21990111
Pa-cln7.061 2_Kousi_2011_novel c.754+2T>A c.754+2T>A n.a. n.a. n.a. Czech Republic Kousi et al, 2012 21990111
Pa-cln7.062 11_Kousi_2011_novel c.754+2T>A c.754+2T>A n.a. n.a. n.a. Czech Republic Kousi et al, 2012 21990111
Pa-cln7.063 17_Kousi_2011_novel c.754+2T>A c.754+2T>A n.a. n.a. n.a. Czech Republic Kousi et al, 2012 21990111
Pa-cln7.064 N0903_Kousi_2011_novel c.754+2T>A p.Arg465Gln n.a. n.a. n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.065 N10203_Kousi_2011_novel p.Thr294Lys p.Thr294Lys vLINCL 4y n.a. Roma from the former Czechoslovakia (residing in Bulgaria) Kousi et al, 2012 21990111
Pa-cln7.066 N1603_Kousi_2011_novel p.Gly310Asp p.Gly310Asp CLN5: p.Lys368Arg n.a. n.a. n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.067 L0203_Kousi_2011_novel p.Pro412Leu not identified n.a. 7.5y No inclusions Mexico Kousi et al, 2012 21990111
Pa-cln7.068 N12503_Kousi_2011_novel p.Met470Val not identified CLN5: p.Leu198Pro n.a. n.a. n.a. Turkey Kousi et al, 2012 21990111 Which are disease mutations?
Pa-cln7.069 N5803_Kousi_2011_novel p.Gln474X p.Gln474X n.a. n.a. n.a. Turkey Kousi et al, 2012 21990111
Pa-cln7.070 RAY33_Kousi_2011_novel p.Gln87X p.Gln87X n.a. n.a. n.a. Canada Kousi et al, 2012 (Ray personal communication) 21990111
Pa-cln7.071 RAY34_Kousi_2011_novel p.Arg139His p.Arg139His n.a. n.a. n.a. Canada Kousi et al, 2012 (Ray personal communication) 21990111
Pa-cln7.072 1_Laranjeira_2012 p.Gly197fsX1 p.Gly197fsX1     vLINCL 3y   African-Portuguese   F Laranjeira pers comm   sibs
Pa-cln7.073 2_Laranjeira_2012 p.Gly197fsX1 p.Gly197fsX1     vLINCL 4y   African-Portuguese   F Laranjeira pers comm    
Notes
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (varaint late infantile), J Juvenile (5-10 yr), A Adult 
GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed