Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia
In: Jichu yixue yu linchuang, Jg. 41 (2021), Heft 4, S. 467-471
Online
academicJournal
Zugriff:
Objective To identify the pathogenic variant in a Chinese family with X-linked agammaglobulinemia (XLA). Methods A trio family with suspected X-linked agammaglobulinemia was recruited. The pathogenic variant was detected by the whole exome sequencing, and then confirmed by Sanger sequencing. cDNA sequencing was performed to find the abnormal splicing of the BTK variant. Quantitative real-time PCR was conducted to evaluate the mRNA expression of BTK in the patient. Results A novel hemizygous splicing variant (c.240+3A>C) was identified in the BTK gene from this patient. The variant co-segregated with the phenotype of the family members was not listed in the public databases, such as dbSNP153,ExAC, gnomAD or the Human Gene Mutation Database. Further Sanger sequencing demonstrated that the BTK c.240+3A>C variant led to a 106 bp from intron 3 of BTK insertion between exon 3 and exon 4 of the BTK transcript. The mRNA expression of BTK in the patient was significantly reduced as compared to a control individual. Conclusions The novel c.240+3A>C splicing variant in BTK likely results in X-linked agammaglobulinemia in this family.
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Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia
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Autor/in / Beteiligte Person: | ZHANG Han, SUN Yang, WANG Rong-rong, ZHANG Wen, ZHANG Xue |
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Zeitschrift: | Jichu yixue yu linchuang, Jg. 41 (2021), Heft 4, S. 467-471 |
Veröffentlichung: | Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College., 2021 |
Medientyp: | academicJournal |
ISSN: | 1001-6325 (print) |
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