Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated...
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| Format: | Article |
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Galenos Publishing House
2018-04-01
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| Series: | Bezmiâlem Science |
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http://bezmialemscience.org/archives/archive-detail/article-preview/could-the-enpp1-pd85h-mutation-be-associated-with-/20185
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| author | Ender COŞKUNPINAR Sakin TEKİN Şükrü PALANDUZ Hakan AVCI Kıvanç CEFLE N. Ozan TİRYAKİOĞLU Ayşe KUBAT ÜZÜM Refik TANAKOL İlhan SATMAN |
| author_facet | Ender COŞKUNPINAR Sakin TEKİN Şükrü PALANDUZ Hakan AVCI Kıvanç CEFLE N. Ozan TİRYAKİOĞLU Ayşe KUBAT ÜZÜM Refik TANAKOL İlhan SATMAN |
| author_sort | Ender COŞKUNPINAR |
| collection | DOAJ |
| description | Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated with familial hypophosphatemia, which revealed an ENPP1 mutation.Methods:Serum samples were obtained after 12-hour fasting. The mutation analysis was performed using previously described primers. Total RNA was isolated from blood samples using Qiagen Total RNA extraction mini kit. cDNA samples were amplified using polymerase chain reaction (PCR), and these PCR products were purified using commercial kits. Following amplification and purification, the PCR products were sequenced.Results:The patient was found to have hypophosphatemia, a high level of PTH, and elevated plasma alkaline phosphatase. Sequencing results revealed an ENPP1 p.D85H mutation.Conclusion:We present the identification of an inactivating mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1. The substituted amino acid residue is highly conserved in ENPP1. At present, we have no further explanation, but our results suggest that ENPP1 p.D85H mutation may be associated with hypophosphatemic rickets accompanied by hearing loss. |
| first_indexed | 2024-04-10T12:13:35Z |
| format | Article |
| id | doaj.art-7b1b6d715a4c4044bf609ae4faaa41ef |
| institution | Directory Open Access Journal |
| issn | 2148-2373 2148-2373 |
| language | English |
| last_indexed | 2024-04-10T12:13:35Z |
| publishDate | 2018-04-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Bezmiâlem Science |
| spelling | doaj.art-7b1b6d715a4c4044bf609ae4faaa41ef2023-02-15T16:15:53ZengGalenos Publishing HouseBezmiâlem Science2148-23732148-23732018-04-016212612910.14235/bs.2018.184013049054Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?Ender COŞKUNPINAR0Sakin TEKİN1Şükrü PALANDUZ2Hakan AVCI3Kıvanç CEFLE4N. Ozan TİRYAKİOĞLU5Ayşe KUBAT ÜZÜM6Refik TANAKOL7İlhan SATMAN8 Department of Internal Medicine, Division of Medical Genetics, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Endocrinology and Metabolism, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Medical Genetics, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Otolaryngology, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Medical Genetics, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Medical Genetics, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Endocrinology and Metabolism, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Endocrinology and Metabolism, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Department of Internal Medicine, Division of Endocrinology and Metabolism, İstanbul University İstanbul School of Medicine, İstanbul, Turkey Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated with familial hypophosphatemia, which revealed an ENPP1 mutation.Methods:Serum samples were obtained after 12-hour fasting. The mutation analysis was performed using previously described primers. Total RNA was isolated from blood samples using Qiagen Total RNA extraction mini kit. cDNA samples were amplified using polymerase chain reaction (PCR), and these PCR products were purified using commercial kits. Following amplification and purification, the PCR products were sequenced.Results:The patient was found to have hypophosphatemia, a high level of PTH, and elevated plasma alkaline phosphatase. Sequencing results revealed an ENPP1 p.D85H mutation.Conclusion:We present the identification of an inactivating mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1. The substituted amino acid residue is highly conserved in ENPP1. At present, we have no further explanation, but our results suggest that ENPP1 p.D85H mutation may be associated with hypophosphatemic rickets accompanied by hearing loss. http://bezmialemscience.org/archives/archive-detail/article-preview/could-the-enpp1-pd85h-mutation-be-associated-with-/20185 Hypophosphatemic ricketshearing lossENPP1mutation |
| spellingShingle | Ender COŞKUNPINAR Sakin TEKİN Şükrü PALANDUZ Hakan AVCI Kıvanç CEFLE N. Ozan TİRYAKİOĞLU Ayşe KUBAT ÜZÜM Refik TANAKOL İlhan SATMAN Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets? Bezmiâlem Science Hypophosphatemic rickets hearing loss ENPP1 mutation |
| title | Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets? |
| title_full | Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets? |
| title_fullStr | Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets? |
| title_full_unstemmed | Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets? |
| title_short | Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets? |
| title_sort | could the enpp1 p d85h mutation be associated with hypophosphatemic rickets |
| topic | Hypophosphatemic rickets hearing loss ENPP1 mutation |
| url |
http://bezmialemscience.org/archives/archive-detail/article-preview/could-the-enpp1-pd85h-mutation-be-associated-with-/20185
|
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