caa a22 4500 467985804 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194224 doi (NATIONALLICENCE)springer-10.1007/BF00194224 Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis [Elektronische Daten] [Naoyuki Kamatani, Shoko Kuroshima, Hisashi Yamanaka, Seizi Nakashe, Hiromichi Take, Masayuki Hakoda] Summary: Homozygous deficiency of a purine salvage enzyme, adenine phosphoribosyltransferase (APRT), causes urolithiasis and renal failure. There are two known types of homozygous APRT deficiencies; type I patients completely lack APRT activity while type II patients only partially lack such activity. All type II patients possess at lest one APRT*J allele with a substitution from ATG (Met) to ACG (Thr) at codon 136. Type I patients are considered to possess two alleles (APRT*Q0) both of which code for complete deficiencies. Thus, some patients with type II APRT deficiencies may have a genotype of APRT*J/APRT*Q0. As no individuals with such a genotype have previously been identified, we performed extensive analysis on four members of a family by (1) the T-cell method for the identification of a homozygote, (2) the B-cell method for the identification of heterozygotes, and (3) oligonucleotide hybridization after in vitro amplification of a part of genomic APRT sequence for the identification of APRT*J and nonAPRT*J alleles. We report here the first evidence that 2,8-dihydroxyadenine urolithiasis developed in a boy aged 2 years with a genotype of APRT*J/APRT*Q0. Springer-Verlag, 1990 Kamatani Naoyuki Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut Kuroshima Shoko Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut Yamanaka Hisashi Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut Nakashe Seizi Department of Pediatrics, Kagoshima Municipal Hospital, 20-17 Kajiya-machi, Kagoshima-shi, Japan aut Take Hiromichi Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut Hakoda Masayuki Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut Human Genetics Springer-Verlag 85/5(1990-10-01), 500-504 0340-6717 85:5<500 1990 85 439 https://doi.org/10.1007/BF00194224 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194224 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kamatani Naoyuki Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut NATIONALLICENCE 700 1- Kuroshima Shoko Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut NATIONALLICENCE 700 1- Yamanaka Hisashi Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut NATIONALLICENCE 700 1- Nakashe Seizi Department of Pediatrics, Kagoshima Municipal Hospital, 20-17 Kajiya-machi, Kagoshima-shi, Japan aut NATIONALLICENCE 700 1- Take Hiromichi Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut NATIONALLICENCE 700 1- Hakoda Masayuki Institute of Rheumatology, Tokyo Women's Medical College, NS Building, 2-4-1 Nishishinjuku, Shinjuku-ku, 160, Tokyo, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 500-504 0340-6717 85:5<500 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer