Skip to main content
Fig. 1 | BMC Medical Genomics

Fig. 1

From: Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation

Fig. 1

Information on CD40LG mutations in this family. A The family pedigree reveals that the maternal carrier of CD40LG 346+ 1 G > T, and his elder brother died early without exome sequencing. This proband presented infant ARDS with a hemizygous CD40LG 346+ 1 G > T mutation. Besides, the next pregnancy of this couple led to the birth of a healthy twin who did not carry the CD40LG 346+ 1 G > T mutation. B Sanger sequencing validation of this patient and his parents. C The reported cases of CD40LG 346+ 1 G > T mutation in database. And Mutation Taster predictive result for this mutation. D The genetic and protein sequencing variant results of all the seven patients who had a diagnosis of XHIGM with CD40LG mutations

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us