痙攣と精神運動遅滞を主訴としたhypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例

症例は18歳の男性である．幼少時より知的障害，12歳で注意欠陥・多動性障害を指摘され，18歳で痙攣をきたした．精神遅滞，腱反射亢進をみとめるが，不随意運動，自傷行為はない．高尿酸血症があり，赤血球hypoxanthine-guanine phosphribosyltransferase（HPRT）の部分低下（残存活性57.4％）をみとめ，HPRT遺伝子解析では，第3エクソンで，1塩基置換（c.179A>G）をみとめ，60番目アミノ酸のミスセンス変異（p.H60R）が同定された．母親はヘテロ接合体で保因者であった．HPRT残存活性が比較的高値を示したHPRT部分欠損症と診断した．...

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Published in臨床神経学 Vol. 54; no. 11; pp. 892 - 896
Main Authors 姫野, 隆洋, 山田, 憲一郎, 吉本, 武史, 音成, 秀一郎, 竹島, 慎一, 山田, 裕一, 栗山, 勝
Format Journal Article
LanguageJapanese
Published 日本神経学会 2014
Subjects
HPRT
変異型
痙攣
遺伝子変異
部分欠損
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ISSN0009-918X
1882-0654
DOI10.5692/clinicalneurol.54.892

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Abstract 症例は18歳の男性である．幼少時より知的障害，12歳で注意欠陥・多動性障害を指摘され，18歳で痙攣をきたした．精神遅滞，腱反射亢進をみとめるが，不随意運動，自傷行為はない．高尿酸血症があり，赤血球hypoxanthine-guanine phosphribosyltransferase（HPRT）の部分低下（残存活性57.4％）をみとめ，HPRT遺伝子解析では，第3エクソンで，1塩基置換（c.179A>G）をみとめ，60番目アミノ酸のミスセンス変異（p.H60R）が同定された．母親はヘテロ接合体で保因者であった．HPRT残存活性が比較的高値を示したHPRT部分欠損症と診断した．
AbstractList 症例は18歳の男性である．幼少時より知的障害，12歳で注意欠陥・多動性障害を指摘され，18歳で痙攣をきたした．精神遅滞，腱反射亢進をみとめるが，不随意運動，自傷行為はない．高尿酸血症があり，赤血球hypoxanthine-guanine phosphribosyltransferase（HPRT）の部分低下（残存活性57.4％）をみとめ，HPRT遺伝子解析では，第3エクソンで，1塩基置換（c.179A>G）をみとめ，60番目アミノ酸のミスセンス変異（p.H60R）が同定された．母親はヘテロ接合体で保因者であった．HPRT残存活性が比較的高値を示したHPRT部分欠損症と診断した．
Author 吉本, 武史
山田, 憲一郎
音成, 秀一郎
栗山, 勝
山田, 裕一
姫野, 隆洋
竹島, 慎一
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  fullname: 吉本, 武史
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  fullname: 音成, 秀一郎
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  fullname: 竹島, 慎一
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  fullname: 栗山, 勝
  organization: 脳神経センター大田記念病院脳神経内科
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References 15) Fu R, Jinnah HA. Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene. J Biol Chem 2012;287: 2997-3008.
5) Page T, Bakay B, Nissinen E, et al. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis 1981;4:203-206.
9) Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect 2000;108 suppl 3:409-411.
12) Fu R, Ceballos-Picot I, Torres RJ, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2014;137:1282-1303.
14) Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
4) Jinnah HA, Ceballos-Picot I, Torres RJ, et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010;133:671-689.
2) Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967;155:1682-1684.
13) Fujimori S, Sakuma R, Yamaoka N, et al. An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans. Hum Genet 1997;99:8-10.
6) Puig JG, Torres RJ, Mateos FA, et al. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001;80:102-112.
8) Yamada Y, Nomura N, Yamada K, et al. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. Nucleosides Nucleotides Nucleic Acids 2014;33:218-222.
11) Kang TH, Park Y, Bader JS, et al. The housekeeping gene hypoxanthine guanine phosphorribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation. PLoS One 2013;8:e74967.
1) Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-570.
3) Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2007;2:48.
16) Nguyen KV, Naviaux RK, Paik KK, et al. Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nucleosides Nucleotides Nucleic Acids 2012;31:616-629.
10) Visser JE, Bär PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev 2000;32:449-475.
7) Nyhan WL. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids 2008;27:559-563.
References_xml – reference: 15) Fu R, Jinnah HA. Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene. J Biol Chem 2012;287: 2997-3008.
– reference: 7) Nyhan WL. Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids 2008;27:559-563.
– reference: 4) Jinnah HA, Ceballos-Picot I, Torres RJ, et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010;133:671-689.
– reference: 1) Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-570.
– reference: 6) Puig JG, Torres RJ, Mateos FA, et al. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001;80:102-112.
– reference: 9) Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect 2000;108 suppl 3:409-411.
– reference: 14) Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
– reference: 8) Yamada Y, Nomura N, Yamada K, et al. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. Nucleosides Nucleotides Nucleic Acids 2014;33:218-222.
– reference: 16) Nguyen KV, Naviaux RK, Paik KK, et al. Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nucleosides Nucleotides Nucleic Acids 2012;31:616-629.
– reference: 2) Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967;155:1682-1684.
– reference: 10) Visser JE, Bär PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev 2000;32:449-475.
– reference: 5) Page T, Bakay B, Nissinen E, et al. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis 1981;4:203-206.
– reference: 12) Fu R, Ceballos-Picot I, Torres RJ, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2014;137:1282-1303.
– reference: 11) Kang TH, Park Y, Bader JS, et al. The housekeeping gene hypoxanthine guanine phosphorribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation. PLoS One 2013;8:e74967.
– reference: 13) Fujimori S, Sakuma R, Yamaoka N, et al. An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans. Hum Genet 1997;99:8-10.
– reference: 3) Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2007;2:48.
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Snippet 症例は18歳の男性である．幼少時より知的障害，12歳で注意欠陥・多動性障害を指摘され，18歳で痙攣をきたした．精神遅滞，腱反射亢進をみとめるが，不随意運動，自傷行為はない．高尿酸血症があり，赤血球hypoxanthine-guanine...
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SubjectTerms HPRT
変異型
痙攣
遺伝子変異
部分欠損
Title 痙攣と精神運動遅滞を主訴としたhypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例
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