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MS. 173/Pathways—Cohesinopathies 

MS. 173/Pathways—Cohesinopathies
Chapter:
MS. 173/Pathways—Cohesinopathies
Author(s):

Yaning Wu

, Matthew A. Deardorff

, and Ian D. Krantz

DOI:
10.1093/med/9780199934522.003.0151
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date: 07 March 2021

The cohesin complex, long known for its canonical role in sister chromatid cohesionduring mitosis and meiosis, is also required in DNA damage repair and gene expression regulation. A collection of developmental disorders due to mutations in cohesin and its regulatory proteins have been referred as “cohesinopathies” that include Cornelia de Lange syndrome (OMIM # 122470, #300590, #610759, #614701 and #300882), Roberts syndrome (OMIM #268300), Warsaw Breakage syndrome (OMIM # 613398) and α‎-Thalassemia/mental retardation syndrome, X-linked (OMIM# 301040). All the cohesinopathies are multi-system disorders, with distinctive clinical findings and genetic inheritance. CdLS, the first cohesinopathy described, is a dominant heterogeneous disorder characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Mutations in NIPBL, SMC1A, SMC3, RAD21, and HDAC8 collectively account for about 75% of individuals with clinically diagnosed CdLS, with NIPBL being the major contributor. The involvement of the cohesin complex in these cohesinopathy syndromes highlights its pivotal roles in development and growth.

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