Spondyloepimetaphyseal dysplasia, Pakistani type explained

Spondyloepimetaphyseal dysplasia, Pakistani type
Synonyms:	Spondyloepimetaphyseal dysplasia, PAPSS2 type^[1]
Field:	Medical genetics

Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2").^[2] The condition is rare.

Genetics

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]

History

This condition was first described in a large eight generation consanguineous Pakistani family.

The causative mutation was identified in 1998.^[4]

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Spondyloepimetaphyseal dysplasia, PAPSS2 type . www.orpha.net . 8 April 2019 . en.
2. Faiyaz ul Haque M, King LM, Krakow D, etal . Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse . Nat. Genet. . 20 . 2 . 157–62 . October 1998 . 9771708 . 10.1038/2458 .
3. Web site: Symbol report for PAPSS2. HUGO Gene Nomenclature Committee.
4. Ahmad M, Haque MF, Ahmad W, etal . Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred . Am. J. Med. Genet. . 78 . 5 . 468–73 . August 1998 . 9714015 . 10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D.