Description:
NORRIE DISEASE; NDP - 310600
NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
| 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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Other
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Ethnicity
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COSTA RICAN
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Family Member
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5
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Relation to Proband
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proband
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
NDP |
| Chromosomal Location |
Xp11.4 |
| Allelic Variant 1 |
310600.0012; NORRIE DISEASE WITH VENOUS INSUFFICIENCY |
| Identified Mutation |
LEU61PHE; Rehm et al. [Hum. Mutat. 9: 402-408 (1997)] identified a large Costa Rican kindred in which 15 males were afflicted with congenital blindness, progressive hearing loss, and venous insufficiency. Studies of the NDP gene showed a point mutation in the third exon resulting in an leu61-to-phe substitution. |
| Remarks |
Costa Rican; corneal opacity; atrophy of iris; catarct; nonreactive pupil; fibrous tiss covers retina; diffuse chorioretinal atrophy; severe sensorineural hearing loss with high frequency component; 2 affected brothers; son of GM12315; the donor subject carries a missense mutation in the NDP gene due to a C-to-T transition (CTC>TTC) at nucleotide position 589 which results in the substitution of phenylalanine for leucine [LEU61PHE (L61F)] in exon 3. |
| Rehm HL, Gutierrez-Espeleta GA, Garcia R, Jimenez G, Khetarpal U, Priest JM,
Sims KB, Keats BJ, Morton CC, Norrie disease gene mutation in a large Costa Rican kindred with a novel
phenotype including venous insufficiency. Hum Mutat9(5):402-8 1997 |
| PubMed ID: 9143918 |
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