19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.
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 including NFIX, and Patient 2 was identified as Sotos syndrome with a 1.6 Mb 5q35.2 microdeletion encompassing NSD1.


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.
Intensive Care Unit, Central South University, Changsha, Hunan Province 410011 China.
Hai-Yun
HY
Dong
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Hui
H
Zeng
The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan Province 410011 China.
Yi-Qiao
YQ
Hu
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Li
L
Xie
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Jian
J
Wang
Department of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, Hunan Province 410011 China.
Xiu-Ying
XY
Wang
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Yi-Feng
YF
Yang
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, 139# Renmin Road, Changsha, Hunan 410011 China ; Department of Cardiothoracic Surgery, Central South University, Changsha, Hunan Province 410011 China.
Zhi-Ping
ZP
Tan
Deletion 19p13.2-13.13; Deletion 5q35.2; Epigenetic diseases; Microarrays-based candidate gene strategy; NSD1; SNP-array
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