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The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency

1998-09Journal article Open access
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dc.contributor.authorCogan, JD
dc.contributor.authorWu, W
dc.contributor.authorPhillips, JA
dc.contributor.authorArnhold, IJ
dc.contributor.authorAgapito, A
dc.contributor.authorFofanova, OV
dc.contributor.authorOsorio, MG
dc.contributor.authorBircan, I
dc.contributor.authorMoreno, A
dc.contributor.authorMendonca, BB
dc.date.accessioned2016-05-09T15:46:22Z
dc.date.available2016-05-09T15:46:22Z
dc.date.issued1998-09
dc.description.abstractCombined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301-302delAG deletion in exon 2 of PROP1, in 10 independently ascertained CPHD kindreds and 21 sporadic cases of CPHD from 8 different countries. Our results show that 55% (11 of 20) of PROP1 alleles have the 301-302delAG deletion in familial CPHD cases. Interestingly, although only 12% (5 of 42) of the PROP1 alleles of our 21 sporadic cases were 301-302delAG, the frequency of this allele (in 20 of 21 of the sporadic subjects given TRH stimulation tests) was 50% (3 of 6) and 0% (0 of 34) in the CPHD cases with pituitary and hypothalamic defects, respectively. Using whole genome radiation hybrid analysis, we localized the PROP1 gene to the distal end of chromosome 5q and identified a tightly linked polymorphic marker, D5S408, which can be used in segregation studies. Analysis of this marker in affected subjects with the 301-302delAG deletion suggests that rather than being inherited from a common founder, the 301-302delAG may be a recurring mutation.pt_PT
dc.identifier.citationJ Clin Endocrinol Metab. 1998 Sep;83(9):3346-9pt_PT
dc.identifier.doi10.1210/jcem.83.9.5142pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2473
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherThe Endocrine Societypt_PT
dc.subjectHCC ENDpt_PT
dc.subjectAllelespt_PT
dc.subjectBase Compositionpt_PT
dc.subjectChromosome Mappingpt_PT
dc.subjectChromosomes, Human, Pair 5pt_PT
dc.subjectDeoxyribonucleases, Type II Site-Specific/metabolismpt_PT
dc.subjectExonspt_PT
dc.subjectGene Deletionpt_PT
dc.subjectGenotypept_PT
dc.subjectHomeodomain Proteins/geneticspt_PT
dc.subjectMicrosatellite Repeatspt_PT
dc.subjectPedigreept_PT
dc.subjectPituitary Hormones/deficiencypt_PT
dc.subjectPolymerase Chain Reactionpt_PT
dc.subjectSequence Analysis, DNApt_PT
dc.subjectTranscription Factors/geneticspt_PT
dc.titleThe PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiencypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage3349pt_PT
oaire.citation.startPage3346pt_PT
oaire.citation.titleJournal of Clinical Endocrinology and Metabolismpt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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