A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects

Frontiers in Pediatrics

article

Hao Huang¹  Jieyuan Jin²  Liping Wu⁴  Huifen Wu⁵  Huichun Pi⁴  Yi Dong²  Rong Xiang² 

[1] Department of Nephrology, Xiangya Hospital, Central South University;National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University;Department of Cell Biology, School of Life Sciences, Central South University;Department of Medical Genetics and Prenatal Diagnosis, Shenzhen Longgang District Maternity and Child Healthcare Hospital;Obstetric Inpatient Department, Shenzhen Longgang District Maternity and Child Healthcare Hospital

关键词: brain malformation;    non-sense;    mutation;    NFIB;    lung lobulation defects;    lissencephaly;   

DOI  :  10.3389/fped.2022.865181

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Background: Nuclear factor I B (NFIB) plays an important role in regulating the transcription of multiple biological processes. Mutations in NFIB cause intellectual disability and macrocephaly. However, studies on abnormal brain and lung development caused by NFIB mutations are lacking. Methods: In the present study, we enrolled a fetus with brain malformation and lung lobulation defects from China. Whole-exome sequencing (WES) was performed to detect the candidate genes and Sanger sequencing was performed for mutational analysis. Results: After data filtering and bioinformatics prediction, a novel non-sense mutation of NFIB (NM_001190737:c.870C > A;p.Tyr290∗ ) was identified in the fetus. This variant was predicted to produce a truncated NFIB protein because of a premature stop codon and was absent in 200 healthy controls. Conclusion: To the best of our knowledge, this is the first case of brain malformation and lung lobulation defects caused by a NFIB variant in Asia. These findings contribute to genetic diagnosis and family counseling and expand our understanding of NFIB mutations as well as brain and lung maturation.

【 授权许可】

CC BY