ESPE2014 Poster Category 3 Bone (2) (14 abstracts)
A Case with Odontohypophosphatasia and Family Investigation
Esra Deniz Papatya Cakir a , Mehmet Ture b , Halil Saglam b , Seyit Ahmet Ucakturk c , Sahin Erdol b , Erdal Eren b , Tahsin Yakut b & Omer Tarim b
aSevket Yilmaz Education and Research Hospital, Bursa, Turkey; bFaculty of Medicine, Uludag University, Bursa, Turkey; cMersin Maternity and Children Hospital, Mersin, Turkey
Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.
Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.
Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calcium, phosphorus, alkaline phosphatase, parathormone and 25 hydroxy vitamin D levels were 9.7 mg/dl, 5.9 mg/dl, 70 U/l, 32.2 pg/ml, 18.9 ng/ml, respectively. We considered that the patient have odontohypophosphatasia. We performed ALPL gene analysis. PCR techniques were used to amplify the all translated exons of the ALPL gene. Sanger sequencing technique was used for mutation analysis and ALPL gene analyzed with ABI 3130 Sequencer divice.
Results: Heterozygous otosomal dominant c.346G>A (p.A116T) mutation was detected in fifth exon of ALPL. ALPL gene analysis was performed to all members of the family. While his father has no mutation, his mother, brother and sister have same heterozygous mutation in the same locus.
Conclusion: Odontohypophosphatasia should be considered in patients with early tooth loss. It can be presented without extremely low alkaline phosphatase levels.
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