A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defect include both genetic and environmental factors....

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Main Authors: Ziqin Liu, Xiaobo Chen
Format: Article
Language:English
Published: Galenos Yayincilik 2020-06-01
Series:JCRPE
Subjects:
receptor roundabout-1 gene
pituitary stalk interruption syndrome
combined pituitary hormone deficiency
missense mutation
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-missense-mutation-in-human-receptor-rounda/30073
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spelling doaj-229b006237b943868949b6db48d7c5902020-11-25T02:25:06ZengGalenos YayincilikJCRPE1308-57271308-57352020-06-0112221221710.4274/jcrpe.galenos.2019.2018.030913049054A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption SyndromeZiqin Liu0Xiaobo Chen1 Capital Institute of Pediatrics, Clinic of Endocrinology, Beijing, China Capital Institute of Pediatrics, Clinic of Endocrinology, Beijing, China Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defect include both genetic and environmental factors. Molecular genetic defects have been indentified in a small number of patients with PSIS. A 4-year-old boy presented with hypoglycemia and hyponatremia associated with growth hormone, thyroid stimulating hormone, and adrenocorticotropic hormone deficiencies. The patient had right sided strabismus. magnetic resonance imaging images showed pituitary hypoplasia, EPP and absent pituitary stalk. A novel Receptor Roundabout-1 (ROBO1) missense mutation (c.1690C>T, p.Pro564Ser) that may contribute to the disorder was found in this patient and his mother, who also exhibited pituitary abnormalities. http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-missense-mutation-in-human-receptor-rounda/30073 receptor roundabout-1 genepituitary stalk interruption syndromecombined pituitary hormone deficiencymissense mutation
collection DOAJ
language English
format Article
sources DOAJ
author Ziqin Liu
Xiaobo Chen
spellingShingle Ziqin Liu
Xiaobo Chen
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
JCRPE
receptor roundabout-1 gene
pituitary stalk interruption syndrome
combined pituitary hormone deficiency
missense mutation
author_facet Ziqin Liu
Xiaobo Chen
author_sort Ziqin Liu
title A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
title_short A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
title_full A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
title_fullStr A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
title_full_unstemmed A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
title_sort novel missense mutation in human receptor roundabout-1 (robo1) gene associated with pituitary stalk interruption syndrome
publisher Galenos Yayincilik
series JCRPE
issn 1308-5727
1308-5735
publishDate 2020-06-01
description Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defect include both genetic and environmental factors. Molecular genetic defects have been indentified in a small number of patients with PSIS. A 4-year-old boy presented with hypoglycemia and hyponatremia associated with growth hormone, thyroid stimulating hormone, and adrenocorticotropic hormone deficiencies. The patient had right sided strabismus. magnetic resonance imaging images showed pituitary hypoplasia, EPP and absent pituitary stalk. A novel Receptor Roundabout-1 (ROBO1) missense mutation (c.1690C>T, p.Pro564Ser) that may contribute to the disorder was found in this patient and his mother, who also exhibited pituitary abnormalities.
topic receptor roundabout-1 gene
pituitary stalk interruption syndrome
combined pituitary hormone deficiency
missense mutation
url http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-missense-mutation-in-human-receptor-rounda/30073
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AT xiaobochen anovelmissensemutationinhumanreceptorroundabout1robo1geneassociatedwithpituitarystalkinterruptionsyndrome
AT ziqinliu novelmissensemutationinhumanreceptorroundabout1robo1geneassociatedwithpituitarystalkinterruptionsyndrome
AT xiaobochen novelmissensemutationinhumanreceptorroundabout1robo1geneassociatedwithpituitarystalkinterruptionsyndrome
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