Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2").[2] The condition is rare.
| Spondyloepimetaphyseal dysplasia, Pakistani type | |
|---|---|
| Other names | Spondyloepimetaphyseal dysplasia, PAPSS2 type[1] |
 | |
| Spondyloepimetaphyseal dysplasia, Pakistani type is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |
Genetics edit
This condition is inherited in an autosomal recessive fashion. It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q23.2-q23.31).[3]
Treatment edit
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History edit
This condition was first described in a large eight generation consanguineous Pakistani family.
The causative mutation was identified in 1998.[4]
References edit
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Spondyloepimetaphyseal dysplasia, PAPSS2 type". www.orpha.net. Retrieved 8 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Faiyaz ul Haque M, King LM, Krakow D, et al. (October 1998). "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse". Nat. Genet. 20 (2): 157–62. doi:10.1038/2458. PMID 9771708.
- ^ "Symbol report for PAPSS2". HUGO Gene Nomenclature Committee.
- ^ Ahmad M, Haque MF, Ahmad W, et al. (August 1998). "Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred". Am. J. Med. Genet. 78 (5): 468–73. doi:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D. PMID 9714015.