Chromatinopathies: A focus on Cornelia de Lange syndrome

被引：50

作者：

Avagliano, Laura ^{[1
]}

Parenti, Ilaria ^{[2
,3
]}

Grazioli, Paolo ^{[1
]}

Di Fede, Elisabetta ^{[1
]}

Parodi, Chiara ^{[1
]}

Mariani, Milena ^{[4
]}

Kaiser, Frank J. ^{[2
,5
,6
]}

Selicorni, Angelo ^{[4
]}

Gervasini, Cristina ^{[1
]}

Massa, Valentina ^{[1
]}

机构：

[1] Univ Milan, Dept Hlth Sci, Via Antonio di Rudini,8, I-20142 Milan, Italy

[2] Univ Lubeck, Inst Human Genet, Sect Funct Genet, Lubeck, Germany

[3] IST Austria, Klosterneuburg, Austria

[4] ASST Lariana, UOC Pediat, Como, Italy

[5] DZHK eV, German Ctr Cardiovasc Res, Partner Site Hamburg Kiel Lubeck, Lubeck, Germany

[6] Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany

来源：

CLINICAL GENETICS | 2020年 / 97卷 / 01期

关键词：

chromatin disorders; cohesinopathies; Cornelia de Lange syndrome; genotype-phenotype relationship; SISTER-CHROMATID COHESION; INTELLECTUAL DISABILITY; TRANSCRIPTIONAL REGULATION; MUTATIONS; COMPLEX; NIPBL; MAINTENANCE; PHENOTYPE; HOMOLOG; BINDING;

D O I：

10.1111/cge.13674

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In recent years, many genes have been associated with chromatinopathies classified as "Cornelia de Lange Syndrome-like." It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Here, we review the molecular features of Cornelia de Lange syndrome, supporting the hypothesis that "CdLS-like syndromes" are part of a larger "rare disease family" sharing multiple clinical features and common disrupted molecular pathways.

引用

页码：3 / 11

页数：9

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