Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome

Abstract

Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. Results:We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. Conclusion:There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS.

Sagliker Syndrome in a Patient With Secondary Hyperparathyroidism and Chronic Kidney Disease: A Case Report From Palestine

“…The clinical manifestations of this syndrome include severe maxillary or mandibular deformities and benign oral tumors. The mechanism of craniofacial bone overgrowth is unclear but could be explained by intramembranous ossification activation in the craniomaxillofacial region [ 9 , 10 ].…”

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“…Moreover, it is shown that missense mutations on the GNAS1 gene play an important role in SS pathogenesis. [2][3][4] The hallmark of SS is the presence of pronounced facial and skeletal alterations, with a preponderance of cases occurring in young women aged between 18 and 39 years. 5 These individuals exhibit severe manifestations, including maxillary or mandibular destruction, short stature, and fingertip deformities.…”

Sagliker syndrome: A case report of a rare manifestation of uncontrolled secondary hyperparathyroidism in chronic renal failure

“…Undergoing dialysis vintage, presenting high serum phosphate levels, and being female are risk factors for this disease[11,12]. Tunc et al[13] proposed that chromosome aberrations are associated with SS. Yildiz et al[14] reported genetic mutations in exons 1, 4, and 10 of the GNAS1 gene are related to SS and are also genetically predisposing factors.…”