GM20255

GM20255 LCL from B-Lymphocyte

Description:

HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG; X-LINKED; PHEX

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Black/African American

Ethnicity

AFRICAN-AMERICAN

Family Member

Relation to Proband

son

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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.