Journal article

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Ricarda Floettmann, Johannes Wagner, Karolina Kobus, Cynthia J Curry, Ravi Savarirayan, Gen Nishimura, Natsuo Yasui, Juergen Spranger, Hilde Van Esch, Michael J Lyons, Barbara R DuPont, Alka Dwivedi, Eva Klopocki, Denise Horn, Stefan Mundlos, Malte Spielmann

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2015

Abstract

INTRODUCTION: Mesomelic dysplasias are a group of skeletal disorders characterised by shortness of the middle limb segments (mesomelia). They are divided into 11 different categories. Among those without known molecular basis is mesomelic dysplasia Savarirayan type, characterised by severe shortness of the middle segment of the lower limb. OBJECTIVE: To identify the molecular cause of mesomelic dysplasia Savarirayan type. METHODS AND RESULTS: We performed array comparative genomic hybridisation in three unrelated patients with mesomelic dysplasia Savarirayan type and identified 2 Mb overlapping de novo microdeletions on chromosome 6p22.3. The deletions encompass four known genes: MBOAT1, E2F..

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