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Mucolipidosis II and III/ (I-cell disease and pseudo-Hurler polydystrophy) N-acetyl-glucosaminyl-l-phosphotransferase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
In the Saguenay–Lac-Sainte-Jean population of Quebec, Canada the frequency of this disease is the highest in the world. A single mutation c.3503-3504 delTC was found in all obligate carriers [30]. This would be consistent with a founder effect. Eleven mutations were found in 13 patients, eight of them novel. In the GNPTG gene, two mutations were c.610-G>T and c.639delT [31].
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: ML2 is an autosomal recessive lysosomal storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency, which leads to defective lysosomal targeting of many lysosomal enzymes. The enzyme is formed by three polypeptide subunits encoded by two genes: the gene coding for the alpha/beta subunits, GNPTAB, causes ML2 and ML3 alpha/beta (a milder form), the gene coding for the gamma subunits, GNPTG, causes ML3 gamma. Patients affected by ML2 show inclusions in the fibroblasts, hence the name of the disease (‘inclusion cell disease’).
Novel causative variants in patients with achromatopsia
Published in Ophthalmic Genetics, 2018
Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty, Patrik Schatz
NGS panel analysis included in all cases the core genes for ACHM, CNGA3, CNGB3, GNAT2, and PDE6C. In cases 2, 3, and 5, the analysis included additional genes for cone, cone/rod, or macular degeneration (ABCA4, ACBD5, ADAM9, AIPL1, BEST1, C1QTNF5, C21orf2, C8orf37, CABP4, CACNA2D4, CDH3, CDHR1, CERKL, CNNM4, CRX, ELOVL4, FBLN5, GUCA1A, GUCA1B, GUCY2D, HMCN1, ITM2B, KCNV2, MERTK, PITPNM3, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RP1L1, and RPGR with exclusion of ORF15, RPGRIP1, SEMA4A, TEAD1, TIMP3, UNC119, and WASF3). For patient 7, the NGS panel analysis included as well genes for Leber’s congenital amaurosis (LCA; ADAMTS18, AIPL1, ALMS1, CABP4, CEP290, CRB1, CRX, DHX38, DTHD1, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MPDZ, MYO7A, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1) and autosomal recessive retinitis pigmentosa (arRP; ABCA4, ACACB, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CERKL, CLRN1,CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, DHX38, EMC, EYS, FAM161A, FLVCR1, GNPTG, GPR125, GRID2, IDH3B, IMPG2, KIAA1549, LRAT, MAK, MERTK, MPDZ, MTTP, MVK, NEK2, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PLA2G5, PRCD, PROM1, PRPH2, RBP3, RBP4, RDH12, RDH5, RERG, RGR, RHBDD2, RHO, RLBP1, RP1, RPE65, SAG, SPATA7, TTC8, TPPA, and TULP1). Reference sequences used variant nomenclature are NM_006204.3 for PDE6C and NM_001298.2 for CNGA3.
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing
Published in Ophthalmic Genetics, 2021
The genes in the panel (Panel-I) containing 56 genes are listed as ABCA4, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BEST1, C2orf71, C8orf37, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, OAT, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PRCD, PROM1, RBP3, RBP4, RDH12, RGR, RHO, RLBP1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF423, ZNF469, ZNF513 and ZNF644.
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
Published in Ophthalmic Genetics, 2021
Mustafa Doğan, Recep Eröz, Emrah Öztürk
Furthermore, genes associated with eye diseases (listed below) were reevaluated. RB1, PGAP1, CLPB, IFT172, RAX, SLC4A4, GJA1, TBK1, GNAT2, GJA3, CSPP1, CYP1B1, HOXA1, LRAT, GJA8, GNAT1, GPR179, PRKCG, MECR, CACNA2D4, RBP4, RBP3, IFT81, TMEM126A, HOXB1, FREM1, ATF6, FREM2, OPTN, RD3, CFH, ABCB6, PLA2G5, RDH12, RDH11, TTPA, ADAMTS18, HESX1, PROM1, PLK4, JAG1, FZD4, ABCA4, SLC16A12, NR2F1, BBIP1, GNPTG, GJB2, ARL2BP, GJB6, MKS1, PPT1, UNC119, CHM, GLI2, PQBP1, SHH, TCTN3, TCTN2, C1QTNF5, TCTN1, FLVCR1, TIMP3, TEAD1, OFD1, CHST6, WDR36, ELOVL4, MYOC, CRPPA, IFT140, ROM1, PAX6, FAM126A, PAX2, COL2A1, ZEB1, PXDN, RARB, PIGL, CRYAA, RGR, CRYAB, CRB1, GRN, OAT, CTDP1, COL11A1, NTF4, TMEM67, CHN1, RHO, GCNT2, SPP2, MFN2, ZNF469, HARS, JAM3, GSN, WHRN, AGK, WDR19, AGBL5, TTLL5, AGBL1, NMNAT1, SMOC1, ALMS1, CEP41, GUCA1B, GUCA1A, BEST1, ABHD12, RIMS1, CDH3, EFEMP1, SALL2, TUBB3, SALL4, CEP250, NEK2, MTPAP,PITX2, PITX3, SLC25A46, MITF, KERA, LEMD2, MAF, DGKQ, MAK, ADAM9, FSCN2, SNRNP200, FTL, COL17A1, ARL6, ARL3, TACSTD2, SPATA7, NEUROD1, PORCN, LOXHD1, ATXN7, TTC21B, PGK1, NDP, SLC38A8, ZNF423, IMPG1, IMPG2, STRA6, WFS1, SRD5A3, SLC4A11, RAX2, BFSP2, BFSP1, LRIT3, TUBGCP6, TPP1, REEP6, TUBGCP4, ACO2, CEP164, POMT1, TSPAN12, RLBP1, KIAA1549, OPA1, ZNF408, OPA3, IDH3B, CNGA1, CNGA3, CEP290, IDH3A, IQCB1, UNC45B, ADGRV1, VPS13B, FOXL2, RP1, MFRP, RRM2B, RP2, DNAJC5, CNGB3, ZNF513, RP9, CNGB1, SLC24A1, PRPS1, CANT1, PRCD, USH1C, CRX, LRP5, SEMA3E, TULP1, TTR, ARL13B, OR2W3, NHS, IARS2, RAB28, DRAM2, CNNM4, TUB, SEMA4A, KCNJ13, MERTK, USH2A, GFER, RPGRIP1, FRAS1, USH1G, IMPDH1, MAB21L2, RAB18, BCOR, TRIM32, MMACHC, C12orf57, PANK2, CISD2, ACTB, PEX26, SOX2, RS1, KIF21A, HMCN1, SIL1, C12orf65, EYS, SOX5, ACVR1, KRT3, P3H2, ADGRA3, MYO7A, OVOL2, MIP, COL8A2, WDPCP, EPHA2, CERKL, MTTP, PEX11B, PCDH15, TRPM1, INPP5E, DHX38, BBS2, BBS1, TREX1, SLC33A1, CPLANE1, GDF3, GDF6, RPE65, COL9A1, ITM2B, VSX1, VSX2, INVS, COL18A1, ROBO3, FOXE3, TENM3, SLC7A14, HCCS, KIF11, SIPA1L3, AUH, SH3PXD2B, BBS9, CTSF, BBS7, CC2D2A, CTSD, BBS5, BBS4 PCYT1A, KIF7, TOPORS, BBS10, BBS12, PITPNM3, CLDN19, RDH5, KIZ, HMX1, SDCCAG8, YAP1, FOXC1, GUCY2D, CRYBA2, CRYBA1, CRYBA4, EMC1, CTNNA1, HSF4, PEX16, PEX19, CRYBB1, CRYBB3, CRYBB2, KRT12, PEX10, PEX12, VAX1, PEX13, PEX14, RP1L1, TTC8, KLHL7, RAB3GAP2, CTNNB1, PRPF31, B9D1, B9D2, RTN4IP1, PNPLA6, RAB3GAP1, PRDM5, CIB2, NRL, MSMO1, LOXL1, GRIP1, CAPN5, RGS9, SBF2, PHYH, OCRL, RPGRIP1L, TRNT1, CFAP410, PRSS56, LZTFL1, KCTD7, DHDDS, PRPF4, PRPF6, FAM161A, TBC1D20, RGS9BP, COL4A1, TMEM138, PRPF3, CHMP4B, LMX1B, AIPL1, UBIAD1, CABP4, LTBP2, ADIPOR1, CACNA1F, PRPF8, GRK1, KCNV2, NPHP1, CDH23, NPHP3, NPHP4, OTX2, PDZD7, TFAP2A, ACBD5, CAV1, TDRD7, BMP7, TMEM231, PHOX2A, C8orf37, BMP4, AHI1, AMACR, COL5A1, PRPH2, TMEM237, MIR184, IFT27, GNB3, CRYL1, TCF4, TGFBI, GALK1, RERE, NGLY1, CHD7, NR2E3, HK1, RPGR, MFSD8, FYCO1, SIX6, ZIC2, GRM6, CA2, CYP4V2, SIX3, CA4, ABCD1, POLG, TGIF1, HGSNAT, MKKS, ABCC6, ARHGEF18, PEX2, PEX1, POMGNT1, LSS, DCN, ALDH1A3, PEX7, VCAN, PEX3, TMEM216, PEX6, CDHR1, PEX5, SAG, NDUFS1, CLRN1, DTHD1, MVK, LAMA1, LCAT, SPG7, CLN8, CLN6, CLN5, ATOH7, CLN3, PDE6D, POC1B, PDE6C, PDE6B, PDE6A, IGBP1, CRYGS, TIMM8A, LIM2, NAA10, EYA1, PDE6H, PDE6G, PCARE, LCA5, NYX, CRYGC, SLC4A7, CRYGD, PIKFYVE, CRYGB, ERCC1, ERCC2, ERCC5, ERCC6, VIM, HCN1.