ArticleAmerican journal of human genetics2005
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
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Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 296 citations in OpenAlex.
- Chromosome abnormalities and the genetics of congenital corneal opacification.Molecular vision · 2011Pooled it
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Duplication of theFrontiers in genetics · 2026Article
- Development of the neurohypophysis: A major neuroendocrine interface.Journal of neuroendocrinology · 2026Review
- The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.Human mutation · 2026Article
- SOX3 facilitates granulosa cell proliferation and suppresses cell apoptosis through modulating PI3K/AKT pathway by targeting SPP1.Cellular and molecular life sciences : CMLS · 2025Article
- Human Pituitary Organoids: Transcriptional Landscape Deciphered by scRNA-Seq and Stereo-Seq, with Insights into SOX3's Role in Pituitary Development.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Common and Uncommon Mouse Models of Growth Hormone Deficiency.Endocrine reviews · 2024Review
- Sex chromosome-encoded protein homologs: current progress and open questions.Nature structural & molecular biology · 2024Review
- Pituitary stalk interruption syndrome: A rare cause of amenorrhea in a patient with normal stature and secondary sexual characteristics.Radiology case reports · 2024Article
- Evolutionary Landscape ofGenes · 2023Article
- Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.PloS one · 2023Article
- Growth hormone deficiency in a case of septo-optic-dysplasia due toBMJ case reports · 2022Article
- Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review.BMC medical genomics · 2022Review
- Genetics and voice production in childhood and adolescence - a review.International journal of pediatrics & adolescent medicine · 2022Article
- Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.BMC medical genomics · 2022Article
- Mammalian X-chromosome inactivation: proposed role in suppression of the male programme in genetic females.Journal of genetics · 2022Article
- Case Report: A Novel Point Mutation ofFrontiers in endocrinology · 2022Article
- The Genetic Backdrop of Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2021Review
- Advances in differential diagnosis and management of growth hormone deficiency in children.Nature reviews. Endocrinology · 2021Review
13 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 6 institutions in 5 countries.
Funding
Abstract
Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract (by 11 alanines) within the transcription factor SOX3 (Xq27.1) has been reported in patients with growth hormone deficiency and variable learning difficulties. We report a submicroscopic duplication of Xq27.1, the smallest reported to date (685.6 kb), in two siblings with variable hypopituitarism, callosal abnormalities, anterior pituitary hypoplasia (APH), an ectopic posterior pituitary (EPP), and an absent infundibulum. This duplication contains SOX3 and sequences corresponding to two transcripts of unknown function; only Sox3 is expressed in the infundibulum in mice. Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP. This mutation led to reduced transcriptional activity, with impaired nuclear localization of the mutant protein. We also identified a novel polymorphism (A43T) in SOX3 in another child with hypopituitarism. In contrast to findings in previous studies, there was no evidence of MR or learning difficulties in our patients. We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR.
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