Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical...
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2016-09-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-21-169.pdf |
| _version_ | 1811303320069865472 |
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| author | Ja Hyang Cho Eungu Kang Gu-Hwan Kim Beom Hee Lee Jin-Ho Choi Han-Wook Yoo |
| author_facet | Ja Hyang Cho Eungu Kang Gu-Hwan Kim Beom Hee Lee Jin-Ho Choi Han-Wook Yoo |
| author_sort | Ja Hyang Cho |
| collection | DOAJ |
| description | Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the CYP27B1 gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the follow-up period, she did not develop genu valgum, scoliosis, or nephrocalcinosis. |
| first_indexed | 2024-04-13T07:46:03Z |
| format | Article |
| id | doaj.art-a826db872cee4a6e9b5420eb55be7eb1 |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-04-13T07:46:03Z |
| publishDate | 2016-09-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-a826db872cee4a6e9b5420eb55be7eb12022-12-22T02:55:42ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922016-09-0121316917310.6065/apem.2016.21.3.169625Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1AJa Hyang Cho0Eungu Kang1Gu-Hwan Kim2Beom Hee Lee3Jin-Ho Choi4Han-Wook Yoo5Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the CYP27B1 gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the follow-up period, she did not develop genu valgum, scoliosis, or nephrocalcinosis.http://e-apem.org/upload/pdf/apem-21-169.pdfCYP27B1HypocalcemiaVitamin D hydroxylation-deficient rickets type 1A |
| spellingShingle | Ja Hyang Cho Eungu Kang Gu-Hwan Kim Beom Hee Lee Jin-Ho Choi Han-Wook Yoo Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A Annals of Pediatric Endocrinology & Metabolism CYP27B1 Hypocalcemia Vitamin D hydroxylation-deficient rickets type 1A |
| title | Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A |
| title_full | Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A |
| title_fullStr | Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A |
| title_full_unstemmed | Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A |
| title_short | Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A |
| title_sort | long term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin d hydroxylation deficient rickets type 1a |
| topic | CYP27B1 Hypocalcemia Vitamin D hydroxylation-deficient rickets type 1A |
| url | http://e-apem.org/upload/pdf/apem-21-169.pdf |
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