Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Article first published online: 30 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1300–1308, June 2013
How to Cite
2013. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype. Am J Med Genet Part A 161A:1300–1308., , , , , , .
- Issue published online: 22 MAY 2013
- Article first published online: 30 APR 2013
- Manuscript Accepted: 6 DEC 2012
- Manuscript Received: 15 MAY 2012
- spondyloepimetaphyseal dysplasia;
- Pakistani type;
- 3′-phosphoadenosine-5′phosphosulfate synthase 2
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in PAPSS2. In a single Turkish patient also hyperandrogenism was reported. We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in PAPSS2. Plasma levels of dehydroepiandrosterone (DHEA) and androstenedione were normal, but DHEA sulfate levels were low in four of the patients. Two patients and a mother had history of pubertal hyperandrogenism. Testosterone level was mildly elevated in one of the female patients, and insulin resistance was not detected in any of the patients. The patients also had precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies, none of which has been reported previously in this entity. (c) 2013 Wiley Periodicals, Inc.