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[Application value of whole exome sequencing in critically ill neonates with inherited diseases].
Chen, Yu-Lan; Zhang, You-Xiang; Yang, Xiu-Fang; Chen, Jian; Li, Xiao-Tong; Huang, Mu-Hua; Ruan, Jing-Wei; Lin, Qiang.
Afiliação
  • Chen YL; Guangzhou Medical University, Guangzhou 510000, China.
  • Zhang YX; Guangzhou Medical University, Guangzhou 510000, China.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(12): 1261-1266, 2020 Dec.
Article em Zh | MEDLINE | ID: mdl-33327995
ABSTRACT

OBJECTIVE:

To study the application value of whole exome sequencing (WES) in critically ill neonates with inherited diseases.

METHODS:

A total of 66 critically ill neonates with suspected inherited diseases or unclear clinical diagnosis who were admitted to the neonatal intensive care unit were enrolled as subjects. The clinical data of the neonates were collected, and venous blood samples were collected from the neonates and their parents for WES. The clinical manifestations of the neonates were observed to search for related pathogenic gene mutations.

RESULTS:

Among the 66 critically ill neonates with suspected inherited diseases or unclear clinical diagnosis (34 boys and 32 girls), 14 (21%) were found to have gene mutations by WES. One neonate had no gene mutation detected by WES but was highly suspected of pigment incontinence based on clinical manifestations, and multiplex ligation-dependent probe amplification detected a heterozygous deletion mutation in exons 4-10 of the IKBKG gene. Among the 15 neonates with gene mutations, 10 (67%) had pathogenic gene mutation, 1 (7%) was suspected of pathogenic gene mutation, and 4 (27%) had gene mutations with unknown significance. Among the 15 neonates, 13 underwent chromosome examination, and only 1 neonate was found to have chromosome abnormality.

CONCLUSIONS:

Chromosome examination cannot be used as a diagnostic method for inherited diseases, and WES detection technology is an important tool to find inherited diseases in critically ill neonates with suspected inherited diseases or unclear clinical diagnosis; however WES technology has some limitation and it is thus necessary to combine with other sequencing methods to achieve an early diagnosis.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estado Terminal / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Screening_studies Limite: Female / Humans / Male / Newborn Idioma: Zh Revista: Zhongguo Dang Dai Er Ke Za Zhi Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estado Terminal / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Screening_studies Limite: Female / Humans / Male / Newborn Idioma: Zh Revista: Zhongguo Dang Dai Er Ke Za Zhi Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China