Family no | Origin | Diagnosis | Gene (deleted exon(s)) | Deletion size (bp) | Mutation name at genomic (g.), cDNA (c.) and protein (p.) levels |
---|---|---|---|---|---|
MOL0255 | Arab Muslim | ARRP | EYS (29) | 76 789 | hg19 Chr6:g.[65 059 867–65 136 655del]; NM_001142800.1: c.5928–37922_6078+38716del; p.(Gln1977Cysfs*12) |
MOL0467 and TB170-R446 | North African Jewish | AR USH1 | MYO7A (47–49) | 1923 | hg19 Chr1:g.[76 923 981–76 925 903del]; NM_000260.3: c.6355–16_6648*162; p.(Gln2119_Lys2215del) |
MOL1268 | Arab Muslim | AR Senior–Loken syndrome | NPHP4 (20–23) | 7272 | hg19 Chr1:g.[5 932 827–5 940 098del]; NM_015102.4: c.2611+75_3315+484del; p.(Arg871Argfs*60) |
MOL0054 | Ashkenazi Jewish | XLRP | RPGR (2–5) | 5786 | hg19 chrX:g.[38 183 697_38 177 912del]; NM_001034853.1: c.29_469del; p.(Asp10_Thr156del) |
TB162 | Ashkenazi Jewish | XLRP | RPGR (4–11) | 28 984 | hg19 chrX:g.[38 180 820_38 151 837del]; NM_001034853.1: c.248_1414del; p.A83_P471del |
MOL0102 | Moroccan Jewish | Choroideremia | CHM, DACH2, KLHL4, CPXCR1, TGIF2LX, PABPC5 and PCDH11 | Unknown borders |
AR, autosomal recessive; USH1, Usher syndrome type 1; XL, X-linked.