A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung

Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 ( PTCH1 ) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of...

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Published in:Human genome variation 2015-06, Vol.2 (1), p.15014-15014, Article 15014
Main Authors: Miyata, Ryo, Kurosawa, Manabu, Sato, Masaaki, Kono, Tomoya, Takubo, Yasutaka, Okai, Shinsaku, Yamada, Keisuke, Shinkura, Reiko, Date, Hiroshi, Matsuda, Fumihiko
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631/208/2489/144
631/208/737
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
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container_title Human genome variation
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creator Miyata, Ryo
Kurosawa, Manabu
Sato, Masaaki
Kono, Tomoya
Takubo, Yasutaka
Okai, Shinsaku
Yamada, Keisuke
Shinkura, Reiko
Date, Hiroshi
Matsuda, Fumihiko
description Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 ( PTCH1 ) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.
doi_str_mv 10.1038/hgv.2015.14
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subjects 631/208/2489/144
631/208/737
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
title A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
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