Development of a targeted gene panel for the diagnosis of Gorlin syndrome |
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| Institution: | 1. Department of Oral Oncology, Oral and Maxillofacial Surgery, Tokyo Dental College, Ichikawa, Chiba, Japan;2. Department of Biochemistry, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan;3. Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan;4. Department of Oral Pathobiological Science and Surgery, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan;1. Department of Stomatology, Shaoxing People’s Hospital, Shaoxing, Zhejiang Province, PR China;2. Department of Head Neck and Thyroid, Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, Henan, PR China;1. Postgraduate Program in Oral Pathology, Department of Dentistry, Federal University of Rio Grande do Norte, Natal, RN, Brazil;2. Postgraduate Program in Dentistry, Department of Dentistry, State University of Paraíba, Campina Grande, PB, Brazil;3. Dr. Luiz Antônio Hospital, Natal, RN, Brazil;1. Harvard School of Dental Medicine, Boston, Massachusetts, USA;2. Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA, USA;3. Program in Global Surgery and Social Change (PGSSC), Harvard Medical School, Boston, MA, USA;1. School of Medicine, University of Queensland, Herston, Australia;2. Department of Maxillofacial Surgery, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia;1. Boston Children’s Hospital, Boston, Massachusetts, USA;2. Harvard School of Dental Medicine, Boston, Massachusetts, USA;3. Division of Gastroenterology, Hepatology and Nutrition, Boston Children’s Hospital, Boston, Massachusetts, USA;4. Division of Otolaryngology and Communication Enhancement, Boston Children’s Hospital, Boston, Massachusetts, USA;5. Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, Massachusetts, USA;1. Oral and Maxillofacial Surgery Department, Queen Elizabeth Hospital Birmingham, UK;2. Restorative Department, Birmingham Dental Hospital, Birmingham, UK |
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| Abstract: | Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the PTCH1, PTCH2, and SUFU genes. Each symptom of the disease has a different time point of onset, which makes early diagnosis based solely on symptoms challenging. In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. A custom panel was generated for four genes associated with Gorlin syndrome: PTCH1, PTCH2, SMO, and SUFU. Twenty-seven samples from 12 patients with Gorlin syndrome and three asymptomatic blood relatives of the patients were examined. This panel was highly reliable with a high Q30 quality score, on-target ratio, and coverage. The panel was time- and cost-efficient and enabled the detection of more mutations than whole-exome sequencing for the same patient. Pathogenic mutations in both PTCH1 and PTCH2 were detected in five of the 12 patients with Gorlin syndrome who were diagnosed based on clinical symptoms. Using this panel, the same mutation was identified in the patients and their blood relatives. In summary, this panel facilitated the highly reliable genetic diagnosis of Gorlin syndrome at a low cost, using only blood samples. |
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| Keywords: | genetic testing molecular diagnostic techniques rare diseases liquid biopsy basal cell nevus syndrome Gorlin syndrome |
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