5/1/2023 0 Comments Splice site mutation![]() , and its protein product, FLCN, cooperatively interacts with its partners folliculin-interacting proteins 1 (FNIP1) and FNIP2, playing important roles in organogenesis and tissue homeostasis. The gene responsible for BHD, folliculin ( FLCN), is located at 17p11.2. The splicing process may be dependent in part on whether the donor or acceptor site is affected.īirt-Hogg-Dubé syndrome (BHD), also called Hornstein-Knickenberg syndrome, is an inherited disorder characterized by skin fibrofolliculomas, multiple pulmonary cysts and kidney cancers. The present case suggests that a splice-site mutation can lead to exon skipping as well as intron reading mRNA. To our knowledge, this is the first report of distinct intron insertion using a BHD patient’s diseased tissue-derived mRNA. Sequence analysis of the latter transcript revealed the insertion of 130 base pairs of intron 9 from the beginning of the splice-site between exons 9 and 10. Two distinct bands were generated one was wild-type and the other was a larger-sized mutant. Total mRNA was extracted from pulmonary cysts, and RT-PCR assessment and sequence analyses were done. The patient exhibited the splice-site mutation of FLCN in the 5′ end of intron 9 (c.1062 + 1G > A). BHD was suspected and genetic testing was performed. Case presentationĪ 59-year-old Japanese patient with multiple pulmonary cysts and pneumothorax was hospitalized due to dyspnea. However, it is poorly understood whether there are any splice-site mutations that cause translation of intron regions in FLCN. In addition, splice-site mutations have been reported, and previous studies have confirmed exon skipping in several cases. The most frequent pattern is a frameshift mutation within a coding exon. Nearly 150 pathogenic mutations have been identified in FLCN. ![]() Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene ( FLCN). ![]()
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