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Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Among mutations observed [9, 11], F188, a 3-bp inframe deletion in a sequence of four consecutive TTC phenylalanine codons encodes an unstable functionless protein. This mutation was found in nine of ten French-Canadian homozygotes and one heterozygote. E180K encodes a stable properly targeted protein and results from a G to A transition at bp 538. This mutation was found in the patient's Irish-American father, but not in his Japanese mother, who had a terminal microdeletion 13q14. Our patient had a nonsense mutation R179X (Camacho et al., personal communication, 2002). This nonsense mutation p.R179X is commonly found in patients from Japan and the Middle East [10]. In 16 patients from 13 unrelated families with HHH syndrome, 13 different mutations were identified in the SLC25A15 gene, including 11 novel mutations [16]. In a recent summary, 35 different mutations were listed for 77 patients [5].
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 large panel (Panel-II) containing 230 genes are listed as ABCA4, ACOX1, ADGRV1, AGXT, AHI1, AIPL1, AMACR, APOB, APOC2, APOE, ARL13B, ARL6, ARX, ASPA, ATXN2, ATXN7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BEST1, BSND, BTD, CACNA1A, CBS, CC2D2A, CDH23, CDH3, CDHR1, CDKL5, CENPJ, CEP152, CEP164, CEP290, CEP41, CERKL, CFH, CHST6, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLRN1, CNGA1, CNGB1, CNGB3, COL11A1, COL9A1, COL9A2, COQ2, CRB1, CRX, CTNS, CTSD, CYP4V2, DHDDS, DNM2, EDN3, EDNRB, ENPP1, ERCC4, ERCC6, ERCC8, ESPN, ESRRB, EYS, FIG4, FKRP, FKTN, G6PC, GBA, GCDH, GJB2, GJB3, GJB6, GLB1, GNPTAB, GPR143, GRXCR1, GUCY2D, HADHA, HADHB, HBB, HEXA, HEXB, HGF, HGSNAT, HSD17B4, IDH3B, IDS, IDUA, IFT80, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, ISPD, KCNJ13, KCNQ2, KCNV2, KIF7, LHFPL5, LOXHD1, LPL, LRAT, LRP5, LRTOMT, MAK, MAN2B1, MARVELD2, MBTPS2, MCOLN1, MEFV, MERTK, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO15A, MYO3A, MYO6, MYO7A, NMNAT1, NPHP1, NPHP3, NPHP4, NYX, OAT, OCA2, OCRL, OFD1, OTOA, OTOF, PAX3, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDSS2, PDZD7, PEX1, PEX10, PEX12, PEX13, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLOD1, POMGNT1, POMGNT2, POMT1, POMT2, PPT1, PRCD, PROM1, PRRT2, RAX, RDH12, RDX, RGR, RHO, RLBP1, RP2, RPE65, RPGR, RPGRIP1L, SACS, SCN1A, SCN2A, SDCCAG8, SEMA4A, SIX6, SLC25A15, SLC25A22, SLC26A4, SLC26A5, SLC37A4, SLC45A2, SMPD1, SNAI2, SPG11, STRA6, STRC, SUMF1, TBC1D24, TCTN1, TCTN3, TECTA, TMC1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMIE, TMPRSS3, TPP1, TPRN, TRIM32, TRIOBP, TTC21B, TULP1, TYR, UQCRB, UQCRQ, USH1C, USH1G, USH2A, WDR19, WFS1, ZFYVE26 and ZNF423.
Fatigue in ANCA-associated vasculitis (AAV) and systemic sclerosis (SSc): similarities with Myalgic encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). A critical review of the literature
Published in Expert Review of Clinical Immunology, 2022
Charmaine van Eeden, Mohammed S. Osman, Jan Willem Cohen Tervaert
GWAS studies looking at the UK Biobank, identified one gene variant (rs7337312) [104], that is supported by observations in metabolic studies in ME/CFS [77,104], this variant results in lower amounts of SLC25A15 mRNA and therefore higher amounts of ornithine in blood. SSc disease presentation with calcinosis and joint pain has been associated with elevated levels of ornithine, though extensive skin changes are associated with lower levels [118].