Research Papers: Chromosome:

Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan–McDermid syndrome

Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang and Jing Wu _

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Oncotarget. 2016; 7:80327-80335. https://doi.org/10.18632/oncotarget.12552

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Dongzhu Lei1,*, Shaoyuan Li2,*, Santasree Banerjee2,*, Haoqing Zhang1, Caiyun Li1, Shuai Hou1, Danjing Chen1, Haiying Yan1, Hanmei Li3, Huan Huan peng2, Saijun Liu2, Xinxin Zhang2,4, Zhiyu Peng2, Jian Wang2, Huanming Yang2,5, Hui Huang2 and Jing Wu2

1 Chenzhou No.1 People’s Hospital, Chenzhou, China

2 BGI-Shenzhen, Shenzhen, China

3 Changsha Maternal and Child Health Hospital, Hunan, China

4 BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China

5 James D. Watson Institute of Genome Sciences, Hangzhou, China

* These authors have contributed equally to this work

Correspondence to:

Jing Wu, email:

Hui Huang, email:

Dongzhu Lei, email:

Keywords: Phelan–McDermid syndrome; 22q13 deletion syndrome; novel deletion; SHANK3; translocation

Received: June 30, 2016 Accepted: September 28, 2016 Published: October 10, 2016


Phelan–McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan–McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan–McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother. We have also used whole genome low-coverage paired-end next generation sequencing to determine whether the parent is the carrier of translocation with terminal 22q13 deletions. We found that both proband and her younger brother are comprises of a novel deletion of 22q13.31q13.33, harboring genes were associated with several clinical phenotype such as severity of speech delay, neonatal hypotonia, delayed in age of walking, male genital anomalies, dysplastic toenails, large and fleshy hands, macrocephaly, short stature, facial asymmetry, and atypical reflexes. Probands and her younger brother inherited this translocation from their mother whereas their father is genotypically normal. In conclusion, our present study expands the deletion spectrum and report a novel deletion associated with Phelan–McDermid syndrome.

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