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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 &amp;gt; 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.

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