Description:
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG; X-LINKED; PHEX
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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2
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Relation to Proband
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son
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| alkaline phosphatase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 3.1.3.1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
PHEX |
| Chromosomal Location |
Xp22.2-p22.1 |
| Allelic Variant 1 |
L650R; HYPOPHOSPHATEMIA, X-LINKED |
| Identified Mutation |
LEU650ARG |
| Remarks |
Clinically affected; born full term; birth weight 3500 g; macrocephaly and craniosynostosis noted at age 5 months; hydrocephalus and Chiari I malformation diagnosed at age 5 months via MRI; diagnosed with X-linked dominant hypophosphatemic rickets at age 2 years; medication was discontinued at age 7 years; cognitive developmental delay; multiple carious teeth; conductive hearing loss; delayed bone age; at age 8 years an exam revealed: height = 103.3 cm (<5%), weight = 21.7 kg (5%), head circumference = 52.5 cm (50%); turribrachycephaly; frontal bossing; malar flattening; exophthalmos; waddling gait; anterior bowing of distal radii; flexion contractures of elbows; bowing of femora and tibia; notching of inner maleolus; synostosis of all sutures and significant signs of intracranial pressure noted via 3D CAT scan; nephrocalcinosis noted via renal ultrasound; skeletal survey noted the following: ricketic changes, osteomalacia, diffuse metaphyseal fraying and cupping and widening of the physis, generalized platyspondyly and mild endplate sclerosis, pars interarticularis fractures and L4-L5 retrolisthesis; normal calcium and PTH levels; elevated alkaline phosphatase and depressed phosphate; donor subject is hemizygous for a T>G transversion at nucleotide 1949 (1949T>G) in exon 19 of the PHEX gene resulting in a substitution of arginine for leucine at codon 650 [Leu650Arg (L650R)]; other affected family members include mother, maternal grandmother, maternal half-aunt and her two sons; affected mother is GM20254. |
| Gene Cards |
PHEX |
| Gene Ontology |
GO:0001503 ossification |
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GO:0004177 aminopeptidase activity |
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GO:0004245 neprilysin activity |
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GO:0005887 integral to plasma membrane |
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GO:0006464 protein modification |
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GO:0006508 proteolysis and peptidolysis |
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GO:0007267 cell-cell signaling |
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GO:0008270 zinc ion binding |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:5251 |
| NCBI GTR |
300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX |
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307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR |
| OMIM |
300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX |
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307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR |
| Omim Description |
HYP |
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HYP1PHOSPHATE REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED, INCLUDED; PHEX,INCLUDED |
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HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS |
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HYPOPHOSPHATEMIA, X-LINKED; XLH |
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HYPOPHOSPHATEMIC D-RESISTANT RICKETS I; HPDR1 |
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PEX, INCLUDED |
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VITAMIN D-RESISTANT RICKETS, X-LINKED |
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