X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)

ABSTRACT X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity...

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Bibliographic Details
Published in:Journal of bone and mineral research 2020-05, Vol.35 (5), p.920-931
Main Authors: Smith, Pamela S, Gottesman, Gary S, Zhang, Fan, Cook, Fiona, Ramirez, Beatriz, Wenkert, Deborah, Wollberg, Valerie, Huskey, Margaret, Mumm, Steven, Whyte, Michael P
Format: Article
Language:English
Subjects:
Adolescent
Adult
Alkaline phosphatase
Bone mineral density
BUROSUMAB
CALCITRIOL
Case-Control Studies
Child
Child, Preschool
Children
DXA
Familial Hypophosphatemic Rickets - genetics
Female
FGF23
Fibroblast Growth Factor-23
Fibroblast Growth Factors - genetics
GENE DELETION
GENE DOSAGE
GENU VALGUM
GENU VARUM
Glomerular filtration rate
GROWTH
HEIGHT
Humans
Hypophosphatemia
Male
Medical treatment
METABOLIC BONE DISEASE
Middle Aged
Mineralization
Monoclonal antibodies
Mutation
NON‐CODING MUTATION
OSTEOMALACIA
PHEX Phosphate Regulating Neutral Endopeptidase - genetics
PHOSPHATE
PHOSPHATONIN
PHOSPHORUS
POLYADENYLATION
Retrospective Studies
RICKETS
SKELETAL DEFORMITY
Spine (lumbar)
Young Adult
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Summary:ABSTRACT X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non‐coding PHEX 3′‐UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age‐ and sex‐matched patients with XLH but without the 3′‐UTR mutation. The “UTR” and “XLH” groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps 
ISSN:0884-0431
1523-4681
DOI:10.1002/jbmr.3955