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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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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 |
150330.0027; WERNER SYNDROME, ATYPICAL |
| Identified Mutation |
ARG133LEU; In 2 unrelated persons in whom a diagnosis of Werner syndrome (277700) had been made but no mutation found in the Werner syndrome gene (RECQL2; 604611), Chen et al. (2003) found heterozygosity for the R1333L mutation in the LMNA gene. One was a white Portuguese female who presented at the age of 9 years with short stature. She showed scleroderma-like skin changes and graying/thinning of hair. Type 2 diabetes developed at the age of 23 years. Hypogonadism, osteoporosis, and voice changes were also present. The other patient was an African American female in whom the diagnosis of Werner syndrome was made at the age of 18 years. Scleroderma-like skin, short stature, graying/thinning of hair, and type 2 diabetes at the age of 18 years were features. The deceased father, paternal aunt, and paternal grandmother of this patient were also diagnosed with severe insulin-resistant diabetes mellitus, suggesting that the R133L mutation might have been paternally inherited. |
| Remarks |
Atypical; clinically affected; African-American; atypical; affected father, paternal aunt, paternal grandmother and paternal great aunt; cannot stay on feet long; hips and knees hurt; restricted movement in wrists and ankles; double jointed knees; insulin-resistant diabetes mellitus; appearance of premature aging; short stature; height 155 cm; thin limbs; pinched, bird-like facial features; some gray in hair; thinning hair; peripheral loss of subcutaneous fat; very dry atrophic skin; hypermelanosis; cold fingers; the karyotype is 46,XX. This donor is heterozygous for a G-to-T substitution at nucleotide 813 (813G>T) in exon 2 of the LMNA gene, resulting in a missense mutation in codon 133 [ARG133LEU (R133L)]. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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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