Locus XLID SOX3

Disease ID
XLID, PHPX
Gene ID
SOX3
Updated
Jun 15, 2026
v2.22.0
Other gene loci
–
Clinical Links
GeneReviews
NBK535148
MalaCard
PNH005INT405
MedGen
394771
Mondo
0010252
OMIM
300123312000
Orphanet
67045
DECIPHER
SOX3
Bioinformatical Links
gnomAD
SOX3
STRipy
SOX3
TR-Atlas
TR173479
WebSTR hg19
STR_1597784
TR Explorer
chrX:140504317-140504361
Suggest Edit

Disease

–
Name X-linked intellectual developmental disorder with isolated growth hormone deficiency; X-linked panhypopituitarism (PHPX)
Inheritance
X-linked recessive
Description
X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without intellectual disability .
Prevalence
3 families reported, however they were distributed across the world .
Age of Onset Age of Onset(Typical)Years0  90  0
Typical: 0-3 (small sample size), ; range: 0-9 .
HPO Terms
–
Association
Mendelian

Locus

hg19 chrX:139586481-139586526
hg38 chrX:140504316-140504361
t2t chrX:138816203-138816248
Details
Expansion to 22-26 repeats or contraction to 8 repeats can cause disease, as reported in 3 families . There is phenotypic and allelic overlap between XLID and PHPX, with the pathogenic threshold for XLID estimated at 26 motifs and the pathogenic threshold for PHPX estimated at 22 motifs .
Mechanism
LoF
Polyalanine expansions leading to aggresome formation and impaired transcriptional activity .
Detection
Year
2002
Location in Gene
Coding Exon 1
Gene Strand

Alleles

Ref. Motif
NGC
Ranges BenignIntermediatePathogenicUnits15  150  022  26
Benign (ref.)
–
Benign (gene)
–
Pathogenic (ref.)
NGC
Pathogenic (gene)
CNG
Unknown (ref.)
–
Unknown (gene)
–
Interruption (ref.)
–
Interruption (gene)
–

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:24346842
3
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:19654509
4
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:21289259
5
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:NBK535148
7
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:17127446
8
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:12428212

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)