Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
LAMIN A/C; LMNA
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 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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IRANIAN
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX
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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 LINE assay |
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| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
150330.0030; WERNER SYNDROME, ATYPICAL |
| Identified Mutation |
ALA57PRO; In an Iranian female with short stature and a diagnosis of progeroid syndrome or atypical Werner syndrome (277700), Chen et al. (2003) found an ala57-to-pro substitution (A57P) resulting from a 584G-C transversion in the LMNA gene. Hypogonadism, osteoporosis, osteosclerosis of digits, and dilated cardiomyopathy were described. The mutation was heterozygous and presumably de novo. |
| Remarks |
Atypical; clinically affected; Iranian; atypical; short stature; height = 138 cm; low birth weight; pinched, bird-like features; sparse hair; tight, atrophic skin with hypermelanosis; hyperkeratosis and wrinkling on soles of feet; ulceration at the right ankle joint; nail deformity; telangiectasia; underdeveloped secondary sexual characteristics; pes planus; scleroderma-like local soft tissue calcification; muscle wasting ; osteosrthritis in knees and hip joints; right side prominent cardiomyopathy; x-ray finding of Perthe's disease; positive 24 hr urinary hyaluronic acid test. This donor is heterozygous for a G-to-C substitution at nucleotide 584 (584G>C) of the LMNA gene, resulting in a missense mutation in codon 57 [ALA57PRO(A57P)]. |
| Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J, LMNA mutations in atypical Werner's syndrome. Lancet362(9382):440-5 2003 |
| PubMed ID: 12927431 |
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