A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
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在一名中国 Boucher-Neuhauser 综合征患者中发现新的 PNPLA6 复合杂合突变
DOI：
10.3892/mmr.2018.8955
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发表时间：
2018-07
影响因子：
3.4
通讯作者：
Li JD
中科院分区：
文献类型：
--
作者：
Zheng R;Zhao Y;Wu J;Wang Y;Liu JL;Zhou ZL;Zhou XT;Chen DN;Liao WH;Li JD
小脑变性、低促性腺激素性性腺功能减退症和脉络膜视网膜营养不良的组合定义了 Boucher-Neuhäuser 综合征 (BNS)，该综合征与含有 6 (PNPLA6) 基因的 patatin 样磷脂酶结构域的常染色体隐性突变有关。然而，中国大陆尚未报告BNS病例。在本研究中，据作者所知，首例 BNS 患者是在中国发现的。一名 39 岁男性首次被诊断患有低促性腺激素性性腺功能减退症。先证者还表现出视网膜变性和小脑营养不良。全外显子组测序鉴定出 PNPLA6 中的复合杂合突变 (c.3386G>T+ c.3534G>C)。突变氨基酸高度保守，预计突变是有害的。这一结果进一步证实了PNPLA6在BNS中的作用，并表明全外显子组测序可用于在观察明显症状之前诊断包括BNS在内的复杂综合征。
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhäuser syndrome (BNS), which has been associated with autosomal-recessive mutations in the patatin-like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient with BNS was identified in China. A 39-year-old male was first diagnosed with hypogonadotropic hypogonadism. The proband additionally exhibited retinal degeneration and cerebellar dystrophy. Whole exome sequencing identified a compound heterozygous mutation in PNPLA6 (c.3386G>T+ c.3534G>C). The mutant amino acids were highly conserved and the mutations were predicted to be deleterious. This result further confirmed the role of PNPLA6 in BNS and suggested that whole exome sequencing may be applied for the diagnosis of complex syndromes, including BNS, prior to the observation of obvious symptoms.
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PNPLA6中的突变与感光受体变性和各种形式的儿童失明有关。
影响因子：
16.6
作者：
Kmoch, S.;Majewski, J.;Ramamurthy, V.;Cao, S.;Fahiminiya, S.;Ren, H.;MacDonald, I. M.;Lopez, I.;Sun, V.;Keser, V.;Khan, A.;Stranecky, V.;Hartmannova, H.;Pristoupilova, A.;Hodanova, K.;Piherova, L.;Kuchar, L.;Baxova, A.;Chen, R.;Barsottini, O. G. P.;Pyle, A.;Griffin, H.;Splitt, M.;Sallum, J.;Tolmie, J. L.;Sampson, J. R.;Chinnery, P.;Banin, E.;Sharon, D.;Dutta, S.;Grebler, R.;Helfrich-Foerster, C.;Pedroso, J. L.;Kretzschmar, D.;Cayouette, M.;Koenekoop, R. K.
通讯作者：
Koenekoop, R. K.
影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
6
作者：
Deik A;Johannes B;Rucker JC;Sánchez E;Brodie SE;Deegan E;Landy K;Kajiwara Y;Scelsa S;Saunders-Pullman R;Paisán-Ruiz C
通讯作者：
Paisán-Ruiz C
影响因子：
14.9
作者：
Wang K;Li M;Hakonarson H
通讯作者：
Hakonarson H
影响因子：
9.8
作者：
Rainier, Shirley;Bui, Melanie;Fink, John K.
通讯作者：
Fink, John K.