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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

作者信息

Farooq Muhammad, Baig Shahid, Tommerup Niels, Kjaer Klaus W

机构信息

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.

出版信息

Am J Med Genet A. 2010 Feb;152A(2):495-7. doi: 10.1002/ajmg.a.33234.

DOI:10.1002/ajmg.a.33234
PMID:20101680
Abstract
摘要

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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.伴有染色体断裂及其他异常的颅缝早闭-小头畸形是由截短型MCPH1突变引起的，与早熟染色体凝聚综合征和原发性常染色体隐性小头畸形1型等位。
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2
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The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.MCPH1基因中的首个错义改变导致常染色体隐性小头畸形，伴有极其轻微的细胞和临床表型。
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4
Mutations in microcephalin cause aberrant regulation of chromosome condensation.小头畸形蛋白的突变会导致染色体凝聚的异常调控。
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Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.由于 Mcph1 功能缺陷导致染色体凝聚失调的小鼠模型的建立。
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Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II.小头畸形蛋白1（MCPH1）所致原发性小头畸形中染色体浓缩调控异常是由凝聚素II介导的。
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Genet Res (Camb). 2018 Aug 8;100:e7. doi: 10.1017/S0016672318000046.
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Front Cell Neurosci. 2015 Mar 27;9:92. doi: 10.3389/fncel.2015.00092. eCollection 2015.
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