GM04647
Fibroblast from Skin, Unspecified
Description:
DYSTROPHIA MYOTONICA 1; DM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders with Trinucleotide Expansions |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Family Member
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2
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Relation to Proband
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son
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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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| Passage Frozen |
2 |
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| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Clinically affected; diagnosed at age 22; bilateral cataracts; frontal baldness; bilateral ptosis; limitation of full lid closure; myotonic ocular response; facial diparesis; diminished phonation amplitude; weakness of intrinsic muscles of the face; myotonic lingual response; loss of muscle bulk to the hands; depressed deep tendon reflexes; myotonia evident with hand grip and after thenar percussion; weakness to the extensors and flexors of the wrist and to the intrinsic muscles of the hands; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1000 (minor species at ~700-800) in the DMPK gene; affected father is GM04573; affected grandfather is GM05142; affected paternal aunt is GM05281; see GM04648 lymphocyte |
| Mateus T, Almeida I, Costa A, Viegas D, Magalhães S, Martins F, Herdeiro MT, da Cruz E Silva OAB, Fraga C, Alves I, Nunes A, Rebelo S, Fourier-Transform Infrared Spectroscopy as a Discriminatory Tool for Myotonic Dystrophy Type 1 Metabolism: A Pilot Study International journal of environmental research and public health18: 2021 |
| PubMed ID: 33917301 |
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| Kino Y, Washizu C, Kurosawa M, Oma Y, Hattori N, Ishiura S, Nukina N, Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins Human molecular genetics24:740-56 2014 |
| PubMed ID: 25274774 |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
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DYSTROPHIA MYOTONICA; DM |
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DYSTROPHIA MYOTONICA; DMPK |
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MYOTONIC DYSTROPHY |
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MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
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MYOTONIN-PROTEIN KINASE, INCLUDED |
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STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
| Passage Frozen |
2 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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