Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene

Celia R. Nogueira; Leah Sabacan; J. Larry Jameson; Geraldo Medeiros-Neto; Peter Kopp

doi:10.1006/mgme.1999.2841

Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene

Celia R. Nogueira, Leah Sabacan, J. Larry Jameson, Geraldo Medeiros-Neto, Peter Kopp^*

^*Corresponding author for this work

Medicine, Endocrinology Division

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

Abstract

Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.

Original language	English (US)
Pages (from-to)	58-61
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	67
Issue number	1
DOIs	https://doi.org/10.1006/mgme.1999.2841
State	Published - May 1999

Keywords

Growth failure
Hormone deficiency
Hypopituitarism
Mutation
PROP-1
Pituitary

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1006/mgme.1999.2841

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title = "Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene",

abstract = "Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.",

keywords = "Growth failure, Hormone deficiency, Hypopituitarism, Mutation, PROP-1, Pituitary",

author = "Nogueira, {Celia R.} and Leah Sabacan and Jameson, {J. Larry} and Geraldo Medeiros-Neto and Peter Kopp",

note = "Funding Information: This work was supported in part by the National Cooperative Program for the Infertility Research (NIH Grant U54-HD-29164) (J.L.J., P.K.), a Northwestern University New Investigator Award from the Howard Hughes Medical Institute (P.K.), and FAPESP (Sao Paulo Research Foundation) Grant 96/00998-4 (C.R.N., G.M.).",

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AU - Sabacan, Leah

AU - Jameson, J. Larry

AU - Medeiros-Neto, Geraldo

AU - Kopp, Peter

N1 - Funding Information: This work was supported in part by the National Cooperative Program for the Infertility Research (NIH Grant U54-HD-29164) (J.L.J., P.K.), a Northwestern University New Investigator Award from the Howard Hughes Medical Institute (P.K.), and FAPESP (Sao Paulo Research Foundation) Grant 96/00998-4 (C.R.N., G.M.).

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N2 - Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.

AB - Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.

KW - Growth failure

KW - Hormone deficiency

KW - Hypopituitarism

KW - Mutation

KW - PROP-1

KW - Pituitary

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Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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