GM23837
Fibroblast from Skin, Unspecified
Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XY.arr(1-22)x2,(XY)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
1.34 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
HPRT1 |
| Chromosomal Location |
Xq26-q27.2 |
| Allelic Variant 1 |
R167M; LESCH-NYHAN SYNDROME |
| Identified Mutation |
ARG167MET |
| Remarks |
Clinically affected; diagnosed at 65 years; symptom onset before one year of age; edentulous; flexion contractures of the fingers; mild motion limitation at left elbow and tenderness and limited range of motion in right shoulder (subject attributed to work trauma); muscle tone mildly increased in the lower extremities; abnormal gait and poor speech lead to diagnosis of cerebral palsy at age 3-4; first kidney stone at age 17, progressive renal dysfunction after this, gout in knees and ankles; gait showed mild intoeing; rolling, alternating hip motion; unable to walk on heels; could not stand on right foot for more than 7 seconds; brisk reflexes at the knees; neurological examination revealed reading and spelling skills at kindergarten level; math at 1st grade level; borderline intellectual functioning (Wechsler IQ 73); severe dyslexia; elevated uric acid level in plasma of 6.8mg/dL; hemizygous for a G>T transversion at nucleotide 500 in exon 7 of the HPRT1 gene resulting in the substitution of methionine for arginine at codon 167 [Arg167Met (R167M)]; treatments include: allopurinol; carpel tunnel release surgery; family history: two affected grandsons (not in repository).
|
| Fu R, Jinnah HA, Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment? Archives of neurology68:270; author reply 270-1 2011 |
| PubMed ID: 21321001 |
| |
| Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL, Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members Archives of neurology67:761-4 2010 |
| PubMed ID: 20558399 |
| Cumulative PDL at Freeze |
5.65 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|