Buschke-ollendorff syndrome pathogenetic mutation in an intron/exon boundary of the <i>LEMD3</i> gene

Korekawa Ayumi, Nakano Hajime, Rokunohe Daiki, Akasaka Eijiro, Nakajima Koji, Toyomaki Yuka, Sawamura Daisuke

doi:10.32216/hirosakiigaku.62.2-4_117

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<i>LEMD3</i> 遺伝子のエクソン / イントロン接合領域に遺伝子変異を認めた Buschke-Ollendorff syndrome
LEMD3 遺伝子のエクソン / イントロン接合領域に遺伝子変異を認めた Buschke-Ollendorff syndrome
LEMD3 イデンシノエクソン/イントロンセツゴウリョウイキニイデンシヘンイオミトメタ Buschke-Ollendorff syndrome

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Abstract

Buschke-Ollendorff syndrome (BOS) is recently shown to result from mutations in the LEMD3 gene. This study examined a 5-year-old boy with asymptomatic multiple flesh-colored round or oval cutaneous plaques on his abdomen and back. Skin biopsy specimen revealed increased amounts of collagen in the dermis extending into the subcutaneous fat. Radiographs of the long bones were normal. Physical examination on the other family members demonstrated that the proband’s father and the elder sister had similar skin plaques on their trunk. Radiographs of the long bones revealed osteopoikilosis in the father. These findings made a diagnosis of BOS. We performed a mutational analysis of the LEMD3 gene using genomic DNA extracted from peripheral blood leukocytes. Direct sequencing of all exons and intron/exon boundaries of the LEMD3 gene, identified a nucleotide change in the intron6/exon6 boundaries in all the affected family members. We discuss the possible molecular pathogenic mechanism of BOS in relation to the defect of LEMD3 function.

Journal

Hirosaki Medical Journal

Hirosaki Medical Journal 62 (2-4), 117-121, 2011

Hirosaki University Graduate School of Medicine,Hirosaki Medical Society

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