Application of whole exome sequencing in 9p deletion syndrome

doi:10.3969/j.issn.1673-8640.2022.06.008

Laboratory Medicine ›› 2022, Vol. 37 ›› Issue (6): 539-542.DOI: 10.3969/j.issn.1673-8640.2022.06.008

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Application of whole exome sequencing in 9p deletion syndrome

YI Wei¹, PAN Yunhua¹, LIU Houchang¹, YU Chongfei¹, YANG Biqing¹, GE Shijun¹, LIN Keqin², CHU Jiayou², YANG Zhaoqing²()

1. Department of Clinical Laboratory,the People's Hospital of Yunnan Province Dehong Prefecture,Mangshi 678400,Yunnan,China
2. Department of Medical Genetics,Institute of Medical Biology,Chinese Academy of Medical Sciences and Peking Union Medical College,Kunming 650118,Yunnan,China

Received:2020-12-01 Revised:2022-03-23 Online:2022-06-30 Published:2022-07-28
Contact: YANG Zhaoqing

Abstract

Abstract:

Objective To report the clinical and molecular cytogenetic characteristics of a XX female patient with 9p deletion syndrome. Methods Chromosome G-banding karyotyping was performed on the patient and her parents,and whole exome sequencing was performed on the patient. The clinical,molecular cytogenetic characteristics and distal deletions on chromosome 9p were analyzed. Results The patient presented with primary amenorrhea,infantile uterus,abnormal level of sex hormones and epilepsy,but without typical clinical features of 9p deletion syndrome such as trigonocephaly and mental retardation. Karyotyping analysis of the patient showed 46,XX,del（9）（p23）,and her parents' karyotypes were normal. Whole exome sequencing showed the patient had a deletion on 9p24.3-p23（24 846-13 022 661,13.0 Mb）,which included critical genes such as DMRT1,DMRT3,DMRT2,DOCK8,KANK1,FOXD4（totally 61 genes）. No other pathogenic copy number variation（CNV）,base insertion and deletion were detected in other regions of chromosomes. Conclusions Haploinsufficiency of one or more genes on the terminal of chromosome 9p may underlie the disorders of sexual development of the patient. Whole exome sequencing provides genotypic data relevant to the clinical phenotypes.

Key words: 9P deletion syndrome, XX karyotype, Whole exome sequencing, Primary amenorrhea

CLC Number:

R446.1

YI Wei, PAN Yunhua, LIU Houchang, YU Chongfei, YANG Biqing, GE Shijun, LIN Keqin, CHU Jiayou, YANG Zhaoqing. Application of whole exome sequencing in 9p deletion syndrome[J]. Laboratory Medicine, 2022, 37(6): 539-542.

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References 15

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Application of whole exome sequencing in 9p deletion syndrome

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