19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Dong, Hai-Yun; Zeng, Hui; Hu, Yi-Qiao; Xie, Li; Wang, Jian; Wang, Xiu-Ying; Yang, Yi-Feng; Tan, Zhi-Ping
• Is Part Of: Molecular cytogenetics. Volume 9:Issue 1(2016)
• Page Start: 1
• Page End: 6
• Publication Date: 2016-12
• Subjects: Deletion 19p13.2-13.13 -- Deletion 5q35.2 -- NSD1 -- SNP-array -- Epigenetic diseases -- Microarrays-based candidate gene strategy; Cytogenetics -- Periodicals; Chromosomes -- Periodicals; Molecular genetics -- Periodicals; 572.805
• DOI: 10.1186/s13039-016-0282-4
• Languages: English
• ISSNs: 1755-8166

Abstract

Abstract Background Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. Results In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes. Patient 1 was Malan syndrome with a 1.4 Mb 19p13.2-13.13 microdeletion includingNFIX, and Patient 2 was identified as Sotos syndrome with a 1.6 Mb 5q35.2 microdeletion encompassingNSD1 . Conclusions We identified two patients associated with Manlan syndrome and Sotos syndrome respectively. We also discuss the use of the microarrays-based candidate gene strategy in Mendelian disease-gene identification.