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[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
Zhonghua Er Ke Za Zhi. 2017 Nov 02; 55(11):858-861.ZE

Abstract

Objective:

To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. The clinical manifestations, bone metabolism examinations, X-RAY and genotypes were reviewed. Result: Our patient was an 11 years old girl, with 7 years history of lower limb malformation. She showed significant valgus deformity of the knee (genu valgum). Metabolic examination revealed reduced level of plasma phosphate (0.86 mmol/L), a normal level of plasma calcium (2.30 mmol/L) and an elevated alkaline phosphatase level of 688 IU/L. The calcium-phosphorus product was 25.9. A homozygous nonsense variants of ENPP1 gene, c.783C>G (p.Tyr261X) in exon 7 was identified in the patient. Both parents were heterozygous carriers. Literature review identified 3 Chinese patients from one publication and 17 cases from twenty one publications around the world. None of the patients was found PHEX variants which is the most common variants among hypophosphatemic rickets patients. The disease onset age was 11 months to 10 years. Eight patients had short stature, five patients had the history of generalized arterial calcification of infancy. Four suffered from deafness, three showed localized calcifications of arteries, three patients manifested pseudoxanthoma elasticum and two suffered from ossification of posterior longitudinal ligament. Nine missense variants, six splicing variants and 4 nonsense variants were reported among these twenty patients. c.783C>G was found in two Chinese patients.

Conclusion:

ENPP1 gene mutation was a cause of patient with hypophosphatemic rickets. Comorbid features included generalized arterial calcification of infancy, early onset hearing loss, pseudoxanthoma and ossification of posterior longitudinal ligament. ENPP1 gene testing should be performed on hypophosphatemic rickets patients without PHEX gene variants. Long-term follow up is recommended. The most common types of ENPP1 gene variants were nonsense/splicing variants. The gene c.783C>G was the most common variants in Chinese patients.

Authors+Show Affiliations

Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

chi

PubMed ID

29141319

Citation

Liu, Z Q., et al. "[Homozygous Ectonucleotide Pyrophosphatase/phosphodiesterase 1 Variants in a Girl With Hypophosphatemic Rickets and Literature Review]." Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, vol. 55, no. 11, 2017, pp. 858-861.
Liu ZQ, Chen XB, Song FY, et al. [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review]. Zhonghua Er Ke Za Zhi. 2017;55(11):858-861.
Liu, Z. Q., Chen, X. B., Song, F. Y., Gao, K., Qiu, M. F., Qian, Y., & Du, M. (2017). [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 55(11), 858-861. https://doi.org/10.3760/cma.j.issn.0578-1310.2017.11.014
Liu ZQ, et al. [Homozygous Ectonucleotide Pyrophosphatase/phosphodiesterase 1 Variants in a Girl With Hypophosphatemic Rickets and Literature Review]. Zhonghua Er Ke Za Zhi. 2017 Nov 2;55(11):858-861. PubMed PMID: 29141319.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review]. AU - Liu,Z Q, AU - Chen,X B, AU - Song,F Y, AU - Gao,K, AU - Qiu,M F, AU - Qian,Y, AU - Du,M, PY - 2017/11/17/entrez PY - 2017/11/17/pubmed PY - 2018/3/24/medline KW - Hypophosphatemia KW - Phosphoric diester hydrolases KW - Rickets SP - 858 EP - 861 JF - Zhonghua er ke za zhi = Chinese journal of pediatrics JO - Zhonghua Er Ke Za Zhi VL - 55 IS - 11 N2 - Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. The clinical manifestations, bone metabolism examinations, X-RAY and genotypes were reviewed. Result: Our patient was an 11 years old girl, with 7 years history of lower limb malformation. She showed significant valgus deformity of the knee (genu valgum). Metabolic examination revealed reduced level of plasma phosphate (0.86 mmol/L), a normal level of plasma calcium (2.30 mmol/L) and an elevated alkaline phosphatase level of 688 IU/L. The calcium-phosphorus product was 25.9. A homozygous nonsense variants of ENPP1 gene, c.783C>G (p.Tyr261X) in exon 7 was identified in the patient. Both parents were heterozygous carriers. Literature review identified 3 Chinese patients from one publication and 17 cases from twenty one publications around the world. None of the patients was found PHEX variants which is the most common variants among hypophosphatemic rickets patients. The disease onset age was 11 months to 10 years. Eight patients had short stature, five patients had the history of generalized arterial calcification of infancy. Four suffered from deafness, three showed localized calcifications of arteries, three patients manifested pseudoxanthoma elasticum and two suffered from ossification of posterior longitudinal ligament. Nine missense variants, six splicing variants and 4 nonsense variants were reported among these twenty patients. c.783C>G was found in two Chinese patients. Conclusion: ENPP1 gene mutation was a cause of patient with hypophosphatemic rickets. Comorbid features included generalized arterial calcification of infancy, early onset hearing loss, pseudoxanthoma and ossification of posterior longitudinal ligament. ENPP1 gene testing should be performed on hypophosphatemic rickets patients without PHEX gene variants. Long-term follow up is recommended. The most common types of ENPP1 gene variants were nonsense/splicing variants. The gene c.783C>G was the most common variants in Chinese patients. SN - 0578-1310 UR - https://www.unboundmedicine.com/medline/citation/29141319/[Homozygous_ectonucleotide_pyrophosphatase/phosphodiesterase_1_variants_in_a_girl_with_hypophosphatemic_rickets_and_literature_review]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0578-1310&year=2017&vol=55&issue=11&fpage=858 DB - PRIME DP - Unbound Medicine ER -