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Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
Clin Endocrinol (Oxf). 2011 Mar; 74(3):312-8.CE

Abstract

BACKGROUND

X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.

OBJECTIVE

The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.

PATIENTS AND METHODS

In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.

RESULTS

Forty-two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.

CONCLUSIONS

Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.

Authors+Show Affiliations

Department of Medicine, University of Texas Health Science Center at Houston, TX 77030, USA. mary.ruppe@uth.tmc.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21050253

Citation

Ruppe, Mary D., et al. "Mutational Analysis of PHEX, FGF23 and DMP1 in a Cohort of Patients With Hypophosphatemic Rickets." Clinical Endocrinology, vol. 74, no. 3, 2011, pp. 312-8.
Ruppe MD, Brosnan PG, Au KS, et al. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf). 2011;74(3):312-8.
Ruppe, M. D., Brosnan, P. G., Au, K. S., Tran, P. X., Dominguez, B. W., & Northrup, H. (2011). Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clinical Endocrinology, 74(3), 312-8. https://doi.org/10.1111/j.1365-2265.2010.03919.x
Ruppe MD, et al. Mutational Analysis of PHEX, FGF23 and DMP1 in a Cohort of Patients With Hypophosphatemic Rickets. Clin Endocrinol (Oxf). 2011;74(3):312-8. PubMed PMID: 21050253.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. AU - Ruppe,Mary D, AU - Brosnan,Patrick G, AU - Au,Kit Sing, AU - Tran,Phong X, AU - Dominguez,Barbara W, AU - Northrup,Hope, PY - 2010/11/6/entrez PY - 2010/11/6/pubmed PY - 2011/6/10/medline SP - 312 EP - 8 JF - Clinical endocrinology JO - Clin Endocrinol (Oxf) VL - 74 IS - 3 N2 - BACKGROUND: X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively. OBJECTIVE: The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets. PATIENTS AND METHODS: In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort. RESULTS: Forty-two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets. CONCLUSIONS: Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets. SN - 1365-2265 UR - https://www.unboundmedicine.com/medline/citation/21050253/Mutational_analysis_of_PHEX_FGF23_and_DMP1_in_a_cohort_of_patients_with_hypophosphatemic_rickets_ L2 - https://doi.org/10.1111/j.1365-2265.2010.03919.x DB - PRIME DP - Unbound Medicine ER -