Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

Antonie D Kline,Anne L Calof,Stacey L Ishman,Katsuhiko Shirahige,Yaning Wu,Matthew A Deardorff,Paul C Megee,Dale Dorsett,Kyoko Yokomori,Alena Egense,Jenni Glad Timmons,Julie Woodman,Ian D Krantz,Blake D Hansen,Richard E Haaland,Rosaysela Santos,Marjorie T Goodban,Arthur D Lander,Antonio Musio,Maurice Belote,Natalie Blagowidow,Jason A Mills,Siddharth Srivastava,Musinu Zakari,Jennifer L Gerton,Sarah E Noon ,Julia T O’connor ,Daryush D Mehta ,Laura Rachele Bettini ,Yvon F Bryan

doi:10.1002/ajmg.a.37056

Abstract

Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Highlights

Title Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium
While some individuals with Cornelia de Lange syndrome (CdLS) live independently, many require lifelong care that is fulfilled by either family at home, or an out-of-home residential placement
Thematic analysis revealed additional factors that may contribute to the Family Quality of Life (FQOL) of families with a child with CdLS

Summary

Introduction

Title Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. Nipbl-deficient mice (Nipblþ/À mice), display no gross limb abnormalities, we find that nipbl-deficient zebrafish exhibit severe reduction defects of the pectoral fins, the homologues of the mammalian forelimb These defects are preceded by dysregulated expression of key developmental genes in the early limb (fin) bud, including fgfs in the apical ectodermal ridge; and shha, hand, and hox genes in limb mesenchyme. Developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

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