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Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.对赫茨等人以及汉弗莱等人的回复：伴有四足运动的小脑发育不全的遗传异质性。
Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105.
2
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.极低密度脂蛋白受体（VLDLR）的突变会导致人类小脑发育不全和四肢行走。
Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7.
3
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.极低密度脂蛋白受体基因突变导致的小脑发育不全及四足运动障碍
Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26.
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"Devolution" of bipedality.两足行走的“退化”
Proc Natl Acad Sci U S A. 2008 May 27;105(21):E25. doi: 10.1073/pnas.0802584105. Epub 2008 May 16.
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Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.以显著小脑萎缩为主的肌张力障碍：家族性肌张力障碍中的一种罕见表型。
Neurology. 2007 Jun 12;68(24):2157; author reply 2157-8. doi: 10.1212/01.wnl.0000269478.69285.7e.
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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.同型分析和靶向基因组测序揭示了一个近亲家族小脑发育不全和四足运动的致病基因。
Genome Res. 2011 Dec;21(12):1995-2003. doi: 10.1101/gr.126110.111. Epub 2011 Sep 1.
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Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.以显著小脑萎缩为主的肌张力障碍：家族性肌张力障碍中的一种罕见表型。
Neurology. 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50.
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A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.腺苷酸脱氨酶结构域外的一种新型AMPD2突变导致9型脑桥小脑发育不全。
Am J Med Genet A. 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. Epub 2017 Feb 7.
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N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.NEFL基因中的N98S突变以常染色体显性方式遗传，具有多发性神经病和小脑萎缩的表型。
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Genes and quadrupedal locomotion in humans.人类的基因与四足动物运动
Proc Natl Acad Sci U S A. 2008 May 27;105(21):E26. doi: 10.1073/pnas.0802839105. Epub 2008 May 15.

引用本文的文献

1
Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.通过与基于芯片的基因分型和孟德尔遗传进行验证，评估使用单样本和多样本调用算法进行单核苷酸多态性（SNP）调用的情况。
BMC Res Notes. 2014 Oct 22;7:747. doi: 10.1186/1756-0500-7-747.
2
Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome.人类四足动物、灵长类动物的四足行走及乌纳·坦综合征。
PLoS One. 2014 Jul 16;9(7):e101758. doi: 10.1371/journal.pone.0101758. eCollection 2014.
3
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.载脂蛋白 B 受体（VLDLR）中的错义起始突变与无四足运动的平衡失调综合征相关。
BMC Med Genet. 2012 Sep 14;13:80. doi: 10.1186/1471-2350-13-80.
4
Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.乌纳·坦综合征：历史、临床评估、遗传学以及人类四足行走的动态变化
Open Neurol J. 2010 Jul 16;4:78-89. doi: 10.2174/1874205X01004010078.
5
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.在两名患有巨脑回和桥脑小脑萎缩的土耳其兄弟中发现了新型 VLDLR 微缺失。
Neurogenetics. 2010 Jul;11(3):319-25. doi: 10.1007/s10048-009-0232-y. Epub 2010 Jan 15.
6
A neuronal VLDLR variant lacking the third complement-type repeat exhibits high capacity binding of apoE containing lipoproteins.一种缺乏第三个补体样重复序列的神经元极低密度脂蛋白受体变体表现出对含载脂蛋白E脂蛋白的高结合能力。
Brain Res. 2009 Jun 18;1276:11-21. doi: 10.1016/j.brainres.2009.04.030. Epub 2009 Apr 22.

本文引用的文献

1
"Devolution" of bipedality.两足行走的“退化”
Proc Natl Acad Sci U S A. 2008 May 27;105(21):E25. doi: 10.1073/pnas.0802584105. Epub 2008 May 16.
2
Genes and quadrupedal locomotion in humans.人类的基因与四足动物运动
Proc Natl Acad Sci U S A. 2008 May 27;105(21):E26. doi: 10.1073/pnas.0802839105. Epub 2008 May 15.
3
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.极低密度脂蛋白受体基因突变导致的小脑发育不全及四足运动障碍
Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26.
4
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.极低密度脂蛋白受体（VLDLR）的突变会导致人类小脑发育不全和四肢行走。
Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7.
5
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.在一个患有失衡综合征的伊朗家族中鉴定极低密度脂蛋白受体基因（VLDLR）中的一个无义突变。
Eur J Hum Genet. 2008 Feb;16(2):270-3. doi: 10.1038/sj.ejhg.5201967. Epub 2007 Nov 28.
6
A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.一个患有四足步态、严重智力迟钝、面部特征粗糙和多毛症的巴西家庭。
Int J Neurosci. 2007 Jul;117(7):927-33. doi: 10.1080/00207450600910721.
7
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.极低密度脂蛋白受体基因的纯合缺失导致常染色体隐性遗传性小脑发育不全并伴有脑回简化。
Am J Hum Genet. 2005 Sep;77(3):477-83. doi: 10.1086/444400. Epub 2005 Jul 22.
8
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.哈特派人群中伴有智力障碍和常染色体隐性遗传的非进行性小脑疾病。
Am J Med Genet. 1981;9(1):43-53. doi: 10.1002/ajmg.1320090109.
9
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.脑瘫中的平衡失调综合征。临床症状与治疗。
Acta Paediatr Scand Suppl. 1972;226:1-63.

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.

作者信息

Ozcelik Tayfun, Akarsu Nurten, Uz Elif, Caglayan Safak, Gulsuner Suleyman, Onat Onur Emre, Tan Meliha, Tan Uner

出版信息

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105.

DOI:10.1073/pnas.0804078105
PMID:18544652
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2656353/
Abstract
摘要