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dc.contributor.author
Fang, Qing
dc.contributor.author
George, Akima S.
dc.contributor.author
Brinkmeier, Michelle L.
dc.contributor.author
Mortensen, Amanda H.
dc.contributor.author
Gergics, Peter
dc.contributor.author
Cheung, Leonard Y.M.
dc.contributor.author
Daly, Alexandre Z.
dc.contributor.author
Ajmal, Adnan
dc.contributor.author
Pérez Millán, María Inés
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dc.contributor.author
Bilge Ozel, A.
dc.contributor.author
Kitzman, Jacob
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dc.contributor.author
Mills, Ryan E.
dc.contributor.author
Li, Jun Z.
dc.contributor.author
Camper, Sally
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dc.date.available
2020-10-20T20:37:32Z
dc.date.issued
2016-12
dc.identifier.citation
Fang, Qing; George, Akima S.; Brinkmeier, Michelle L.; Mortensen, Amanda H.; Gergics, Peter; et al.; Genetics of combined pituitary hormone deficiency: Roadmap into the genome era; Endocrine Society; Endocrine Reviews; 37; 6; 12-2016; 636-675
dc.identifier.issn
0163-769X
dc.identifier.uri
http://hdl.handle.net/11336/116202
dc.description.abstract
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting disease progression, avoiding unnecessary surgery, and family planning. Weexpect that the application of high throughput sequencing will uncover additional contributing genes and eventually become a valuable tool for molecular diagnosis. For example, in the last 3 years, six new genes have been implicated in CPHD using whole-exome sequencing. In this review, we present a historical perspective on gene discovery for CPHD and predict approaches that may facilitate future gene identification projects conducted by clinicians and basic scientists. Guidelines for systematic reporting of genetic variants and assigning causality are emerging. We apply these guidelines retrospectively to reports of the genetic basis of CPHD and summarize modes of inheritance and penetrance for each of the known genes. In recent years, there have been great improvements in databases of genetic information for diverse populations. Some issues remain that make molecular diagnosis challenging in some cases. These include the inherent genetic complexity of this disorder, technical challenges like uneven coverage, differing results from variant calling and interpretation pipelines, the number of tolerated genetic alterations, and imperfect methods for predicting pathogenicity.Wediscuss approaches for future research in the genetics of CPHD.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Endocrine Society
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Hipopituitarism
dc.subject
Human Genetics
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Sequecing
dc.subject
Mutations
dc.subject.classification
Otras Ciencias Biológicas
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dc.subject.classification
Ciencias Biológicas
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dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
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dc.title
Genetics of combined pituitary hormone deficiency: Roadmap into the genome era
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-06-06T13:37:48Z
dc.identifier.eissn
1945-7189
dc.journal.volume
37
dc.journal.number
6
dc.journal.pagination
636-675
dc.journal.pais
Estados Unidos
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dc.journal.ciudad
Washington DC
dc.description.fil
Fil: Fang, Qing. University of Michigan; Estados Unidos
dc.description.fil
Fil: George, Akima S.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Brinkmeier, Michelle L.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Mortensen, Amanda H.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Gergics, Peter. University of Michigan; Estados Unidos
dc.description.fil
Fil: Cheung, Leonard Y.M.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Daly, Alexandre Z.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Ajmal, Adnan. University of Michigan; Estados Unidos
dc.description.fil
Fil: Pérez Millán, María Inés. University of Michigan; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Biomédicas; Argentina
dc.description.fil
Fil: Bilge Ozel, A.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Kitzman, Jacob. University of Michigan; Estados Unidos
dc.description.fil
Fil: Mills, Ryan E.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Li, Jun Z.. University of Michigan; Estados Unidos
dc.description.fil
Fil: Camper, Sally. University of Michigan; Estados Unidos
dc.journal.title
Endocrine Reviews
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155665/
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1210/er.2016-1101
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/edrv/article/37/6/636/2691717
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