XLMR SOX3
Disease ID
XLMR
Gene ID
SOX3
Updated
May 12, 2025
v2.4.3
v2.4.3
Disease
Name
X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone
Inheritance
X-linked recessive Locus
Details
Mechanism
LoF
Alleles
Ref. Motif
NGC
Pathogenic (ref.)
NGC
Pathogenic (gene)
CNG
gnomAD
Pathogenic genotype frequency data is not displayed for this locus because a substantial number of large alleles failed manual review by the gnomAD team.
References
Direct supporting references for info on this page.
1
A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
Masaki,Takagi, Tomohiro,Ishii, Chiharu,Torii, Kenjiro,Kosaki, Tomonobu,Hasegawa
Pituitary · 2014-12-01
pmid:243468423
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
Emma M M,Burkitt Wright, Rahat,Perveen, Peter E,Clayton, Catherine M,Hall, Teresa,Costa, Annie M,Procter, Carol A,Giblin, Dian,Donnai, Graeme C,Black
Clinical dysmorphology · 2009-10-01
pmid:196545094
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
Kyriaki S,Alatzoglou, Daniel,Kelberman, Christopher T,Cowell, Rodger,Palmer, Ivo J P,Arnhold, Maria E,Melo, Dirk,Schnabel, Annette,Grueters, Mehul T,Dattani
The Journal of clinical endocrinology and metabolism · 2011-02-02
pmid:212892595
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK5351486
Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
Jacqueline,Wong, Peter,Farlie, Sebastien,Holbert, Paul,Lockhart, Paul Q,Thomas
Frontiers in bioscience : a journal and virtual library · 2007-01-01
pmid:171274467
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
Frédéric,Laumonnier, Nathalie,Ronce, Ben C J,Hamel, Paul,Thomas, James,Lespinasse, Martine,Raynaud, Christine,Paringaux, Hans,Van Bokhoven, Vera,Kalscheuer, Jean-Pierre,Fryns, Jamel,Chelly, Claude,Moraine, Sylvain,Briault
American journal of human genetics · 2002-11-08
pmid:12428212Additional Literature
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)