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A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.
Am J Med Genet A. 2015 Dec; 167A(12):3192-6.AJ

Abstract

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis.

Authors+Show Affiliations

General Perinatal Medical Center, Shikoku Medical Center for Children and Adults, Zentsuji, Japan.Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan. Student Lab, Tokushima University Faculty of Medicine, Tokushima, Japan.Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan. Student Lab, Tokushima University Faculty of Medicine, Tokushima, Japan.Department of Stress Science, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.General Perinatal Medical Center, Shikoku Medical Center for Children and Adults, Zentsuji, Japan.Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26780237

Citation

Morine, Mikio, et al. "A Unique TBX5 Microdeletion With Microinsertion Detected in Patient With Holt-Oram Syndrome." American Journal of Medical Genetics. Part A, vol. 167A, no. 12, 2015, pp. 3192-6.
Morine M, Kohmoto T, Masuda K, et al. A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. Am J Med Genet A. 2015;167A(12):3192-6.
Morine, M., Kohmoto, T., Masuda, K., Inagaki, H., Watanabe, M., Naruto, T., Kurahashi, H., Maeda, K., & Imoto, I. (2015). A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. American Journal of Medical Genetics. Part A, 167A(12), 3192-6. https://doi.org/10.1002/ajmg.a.37359
Morine M, et al. A Unique TBX5 Microdeletion With Microinsertion Detected in Patient With Holt-Oram Syndrome. Am J Med Genet A. 2015;167A(12):3192-6. PubMed PMID: 26780237.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. AU - Morine,Mikio, AU - Kohmoto,Tomohiro, AU - Masuda,Kiyoshi, AU - Inagaki,Hidehito, AU - Watanabe,Miki, AU - Naruto,Takuya, AU - Kurahashi,Hiroki, AU - Maeda,Kazuhisa, AU - Imoto,Issei, Y1 - 2015/09/28/ PY - 2015/06/18/received PY - 2015/08/24/accepted PY - 2016/1/19/entrez PY - 2016/1/19/pubmed PY - 2016/10/21/medline KW - Holt–Oram syndrome KW - TBX5 KW - error‐prone DNA polymerase KW - microindel SP - 3192 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 167A IS - 12 N2 - Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26780237/A_unique_TBX5_microdeletion_with_microinsertion_detected_in_patient_with_Holt_Oram_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.37359 DB - PRIME DP - Unbound Medicine ER -