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Pérez Millán, M.I.; Vishnopolska, S.A.; Daly, A.Z.; Bustamante, J.P.; Seilicovich, A.; Bergadá, I.; Braslavsky, D.; Keselman, A.C.; Lemons, R.M.; Mortensen, A.H.; Marti, M.A.; Camper, S.A.; Kitzman, J.O. "Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism" (2018) Molecular Genetics and Genomic Medicine. 6(4):514-525
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Abstract:

Background: Congenital Hypopituitarism is caused by genetic and environmental factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone deficiency. The etiology remains unknown for up to 80% of the patients, but most cases have been analyzed by limited candidate gene screening. Mutations in the PROP1 gene are the most common known cause, and the frequency of mutations in this gene varies greatly by ethnicity. We designed a custom array to assess the frequency of mutations in known hypopituitarism genes and new candidates, using single molecule molecular inversion probes sequencing (smMIPS). Methods: We used this panel for the first systematic screening for causes of hypopituitarism in children. Molecular inversion probes were designed to capture 693 coding exons of 30 known genes and 37 candidate genes. We captured genomic DNA from 51 pediatric patients with CPHD (n = 43) or isolated GH deficiency (IGHD) (n = 8) and their parents and conducted next generation sequencing. Results: We obtained deep coverage over targeted regions and demonstrated accurate variant detection by comparison to whole-genome sequencing in a control individual. We found a dominant mutation GH1, p.R209H, in a three-generation pedigree with IGHD. Conclusions: smMIPS is an efficient and inexpensive method to detect mutations in patients with hypopituitarism, drastically limiting the need for screening individual genes by Sanger sequencing. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Registro:

Documento: Artículo
Título:Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism
Autor:Pérez Millán, M.I.; Vishnopolska, S.A.; Daly, A.Z.; Bustamante, J.P.; Seilicovich, A.; Bergadá, I.; Braslavsky, D.; Keselman, A.C.; Lemons, R.M.; Mortensen, A.H.; Marti, M.A.; Camper, S.A.; Kitzman, J.O.
Filiación:Institute of Biomedical Investigations (INBIOMED-UBA-CONICET), University of Buenos Aires, Buenos Aires, Argentina
Department of Biological Chemistry (IQUIBICEN-UBA-CONICET), Faculty of Exact and Natural Sciences, University of Buenos Aires, Buenos Aires, Argentina
Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States
División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Centro de Investigaciones Endocrinológicas ‘Dr César Bergadá’ (CEDIE) CONICET – FEI, Buenos Aires, Argentina
Palabras clave:congenital hypopituitarism; GH1; growth hormone deficiency; single-molecule molecular inversion probes
Año:2018
Volumen:6
Número:4
Página de inicio:514
Página de fin:525
DOI: http://dx.doi.org/10.1002/mgg3.395
Título revista:Molecular Genetics and Genomic Medicine
Título revista abreviado:Mol. Genetics Genom. Med.
ISSN:23249269
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_23249269_v6_n4_p514_PerezMillan

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Citas:

---------- APA ----------
Pérez Millán, M.I., Vishnopolska, S.A., Daly, A.Z., Bustamante, J.P., Seilicovich, A., Bergadá, I., Braslavsky, D.,..., Kitzman, J.O. (2018) . Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. Molecular Genetics and Genomic Medicine, 6(4), 514-525.
http://dx.doi.org/10.1002/mgg3.395
---------- CHICAGO ----------
Pérez Millán, M.I., Vishnopolska, S.A., Daly, A.Z., Bustamante, J.P., Seilicovich, A., Bergadá, I., et al. "Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism" . Molecular Genetics and Genomic Medicine 6, no. 4 (2018) : 514-525.
http://dx.doi.org/10.1002/mgg3.395
---------- MLA ----------
Pérez Millán, M.I., Vishnopolska, S.A., Daly, A.Z., Bustamante, J.P., Seilicovich, A., Bergadá, I., et al. "Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism" . Molecular Genetics and Genomic Medicine, vol. 6, no. 4, 2018, pp. 514-525.
http://dx.doi.org/10.1002/mgg3.395
---------- VANCOUVER ----------
Pérez Millán, M.I., Vishnopolska, S.A., Daly, A.Z., Bustamante, J.P., Seilicovich, A., Bergadá, I., et al. Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. Mol. Genetics Genom. Med. 2018;6(4):514-525.
http://dx.doi.org/10.1002/mgg3.395