FLCN : The causative gene for Birt-Hogg-Dubé syndrome
نویسندگان
چکیده
منابع مشابه
Birt-Hogg-Dubé syndrome*
A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was cor...
متن کاملIdentification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome (BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The FLCN mutation detection rate by bidirectional DNA sequencing in the National Cancer Institute BHDS cohort was 88%. To determine if germline FLCN intragenic deletions/duplications were...
متن کاملNovel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients ma...
متن کاملBirt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene.
Molecular analysis of the folliculin (FLCN) gene was performed in four consenting patients from two families with Birt-Hogg-Dubé (BHD) syndrome, showing the occurrence of two frameshift mutations located respectively in exons 5 (802insA) and 9 (1345delAAAG) of the FLCN gene. A novel homozygous sequence variant in the intron 9 (IVS9 +5C>T) was also found. 1345delAAAG was associated with a wide v...
متن کاملBirt-Hogg-Dubé syndrome in an African patient and a novel mutation in the FLCN gene.
Report of a Case | A 53-year-old man from Somalia with a history of hypertension presented with multiple asymptomatic bumps on his face that appeared progressively over time. He denied having a personal or family history of similar lesions, renalcell carcinoma,spontaneouspneumothorax,orotherpulmonarydisease. Physical examination revealeddiffuse fleshcolored, dome-shapedandpedunculatedpapules on...
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ژورنال
عنوان ژورنال: Gene
سال: 2018
ISSN: 0378-1119
DOI: 10.1016/j.gene.2017.09.044