title: Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.
abstract: 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.
authors: Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey. beyhan@istanbul.edu.tr
authors: Beyhan
authors: B
authors: Tüysüz
authors: Saliha
authors: S
authors: Yılmaz
authors: Ece
authors: E
authors: Gül
authors: Luis
authors: L
authors: Kolb
authors: Kaya
authors: K
authors: Bilguvar
authors: Olcay
authors: O
authors: Evliyaoğlu
authors: Murat
authors: M
authors: Günel
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002113:Calcification, Physiologic / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D003687:Dehydroepiandrosterone / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005838:Genotype; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D006720:Homozygote; D009097:Multienzyme Complexes / Q000235:genetics; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D017422:Sequence Analysis, DNA; D013430:Sulfate Adenylyltransferase / Q000235:genetics; D014421:Turkey; D011629:Puberty, Precocious; D013131:Spine / Q000002:abnormalities
chemical_list: D018389:Codon, Nonsense; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D009097:Multienzyme Complexes; C022322:PAPS synthetase; D013430:Sulfate Adenylyltransferase