| Spondyloepimetaphyseal dysplasia, Pakistani type | |
|---|---|
| Other names | Spondyloepimetaphyseal dysplasia, PAPSS2 type [1] |
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| Spondyloepimetaphyseal dysplasia, Pakistani type is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2"). [2] The condition is rare.
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]
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This condition was first described in a large eight generation consanguineous Pakistani family.
The causative mutation was identified in 1998. [4]
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