Abstract

The long-term objectives of this study are to characterize the gene defects leading to familial hypophosphatemic rickets (FHR), to understand how phosphate transport is regulated, and to lay the ground work for better therapy for affected individuals. PEX is the gene responsible for the most common form of FHR, X-linked hypophosphatemic rickets (HYP). In previous studies, no PEX mutation was detectable in about 50% of individuals with FHR, suggesting that some affected individuals may have autosomal dominant hypophosphatemic rickets (ADHR), another form of FHR for which the genetic defect is not known. The hypothesis is that mutations in genes other than PEX may lead to the HYP phenotype, and that these genes play an important role in phosphate transport.
Specific Aims : 1) Analyze FHR patients for mutations in PEX 2) Perform a genotype-phenotype analysis of PEX mutations in patients with HYP 3) Identify a subset of patients with FHR and no detectable mutation in PEX, who will be used to search for other loci responsible for ADHR, with special emphasis on chromosomes 9 and 13.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR002172-17
Application #
6120821
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
17
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Cassidy, Adam R; Bernstein, Jane Holmes; Bellinger, David C et al. (2018) Visual-spatial processing style is associated with psychopathology in adolescents with critical congenital heart disease. Clin Neuropsychol :1-19
Bean Jaworski, Jessica L; White, Matthew T; DeMaso, David R et al. (2018) Visuospatial processing in adolescents with critical congenital heart disease: Organization, integration, and implications for academic achievement. Child Neuropsychol 24:451-468
Hron, Bridget M; Ebbeling, Cara B; Feldman, Henry A et al. (2017) Hepatic, adipocyte, enteric and pancreatic hormones: response to dietary macronutrient composition and relationship with metabolism. Nutr Metab (Lond) 14:44
Rollins, Caitlin K; Asaro, Lisa A; Akhondi-Asl, Alireza et al. (2017) White Matter Volume Predicts Language Development in Congenital Heart Disease. J Pediatr 181:42-48.e2
Sakai Bizmark, Rie; Chang, Ruey-Kang R; Tsugawa, Yusuke et al. (2017) Impact of AHA's 2007 guideline change on incidence of infective endocarditis in infants and children. Am Heart J 189:110-119
Selamet Tierney, Elif Seda; Hollenbeck-Pringle, Danielle; Lee, Caroline K et al. (2017) Reproducibility of Left Ventricular Dimension Versus Area Versus Volume Measurements in Pediatric Patients With Dilated Cardiomyopathy. Circ Cardiovasc Imaging 10:
Kim, So Hyun; Joseph, Robert M; Frazier, Jean A et al. (2016) Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. J Pediatr 178:101-107.e2
Leviton, Alan; Allred, Elizabeth N; Fichorova, Raina N et al. (2016) Antecedents of inflammation biomarkers in preterm newborns on days 21 and 28. Acta Paediatr 105:274-80
Cousminer, Diana L; Widén, Elisabeth; Palmert, Mark R (2016) The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity. Curr Opin Endocrinol Diabetes Obes 23:57-65
Keerthy, Divya; Youk, Ada; Srinath, Arvind I et al. (2016) Effect of Psychotherapy on Health Care Utilization in Children With Inflammatory Bowel Disease and Depression. J Pediatr Gastroenterol Nutr 63:658-664

Showing the most recent 10 out of 463 publications