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GM25950 Fibroblast

Description:

MYOPATHY, CENTRONUCLEAR, 1; CNM1
TITIN; TTN

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
CMD Specific
PIGI Consented Sample
Biopsy Source Back
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; symptom onset during first 6 months of life; presentation in utero with decreased fetal movements, muscle weakness/decreased respiration at birth; facial weakness; high-arched palate; scoliosis; maximum motor function ever achieved: sit when placed; current motor function: sit when placed; motor functions never achieved: holding head up without assistance, walking without assistance, or running; normal cognitive ability; diagnosis of centronuclear myopathy confirmed by muscle biopsy, skin biopsy, and genetic testing; myopathic nerve conduction velocity; myopathic EMG; absent deep tendon reflexes; biopsy at 3 months of age revealed central nuclei and fiber size variation but no type I fiber predominance and no increase in connective tissue or endomysial tissue; Sanger sequencing revealed compound heterozygous mutation in the TTN gene: c.15721+1G>A (full-length titin, NM_001267550.1) on intron 52 of the paternal allele - a predicted splice site variant, c.44998_45001del and c.106244delG frameshift mutations on the maternal allele; normal MRI/CT scan; normal echo; no ocular, cardiac or brain involvement; management: at 5 years, needed pulmonary aspiration and used oxygen support during the day, had combined oral and G-tube feeding since infancy; no trach tube; no family history of disease; subject is 979-1 in Neurology (2013) 81:1-10, PMID:23975875.

Characterizations

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PDL at Freeze 4.9
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene TTN
Chromosomal Location 2q31.2
Allelic Variant 1 ; MYOPATHY, CENTRONUCLEAR
Identified Mutation c.15721+1G>A; Titin
 
Gene TTN
Chromosomal Location 2q31.2
Allelic Variant 2 ; MYOPATHY, CENTRONUCLEAR
Identified Mutation c.44998_45001del (p.N22897fs)
 
Gene TTN
Chromosomal Location 2q31.2
Allelic Variant 2 ; MYOPATHY, CENTRONUCLEAR
Identified Mutation c.106244delG (p.G32772fs)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 8 YR
Sex Male
Age of Onset(If not a control) 6 MO
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  TTN, C.15721+G>A, SPLICING, INTRON 52
Zygosity:  Heterozygous
Other variants:  TTN, C.44998_45001DEL (P.N22897FS), FRAMESHIFT, EXON 326 TTN, C.106244DELG (P.G32772FS), FRAMESHIFT, EXON 358
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  6 MONTHS
In Utero History Information
Decreased fetal movement
Birth History Information
Additional Information:  MUSCLE WEAKNESS DECREASED RESPIRATION
Dysmorphic Features
Neurological Symptoms
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Holding Head Up Without Assistance:  Not achieved and not maintained
Sitting Without Assistance:  Achieved and maintained
Walking Without Assistance:  Not achieved and not maintained
Running:  Not achieved and not maintained
Gastrointestinal Symptoms
Additional Information:  COMBINED ORAL AND G-TUBE FEEDING
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Additional Information:  PULMONARY ASPIRATION
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Neurological Testing:  NERVE CONDUCTION VELOCITY: MYOPATHIC ELECTROMYOGRAPHY: MYOPATHIC DEEP TENDON REFLEXES: ABSENT MRI: NORMAL
Musculoskeletal and Developmental Testing:  MUSCLE BIOPSY: CENTRAL NUCLEI, FIBER SIZE VARIATION
Treatments and Assistive Devices
Additional Testing:  USE RESPIRATORY SUPPORT ALL NIGHTS, WHEN ILL OR IN ANTICIPATION OF SURGERY
Medications
Family History
Remarks Clinically affected; symptom onset during first 6 months of life; presentation in utero with decreased fetal movements, muscle weakness/decreased respiration at birth; facial weakness; high-arched palate; scoliosis; maximum motor function ever achieved: sit when placed; current motor function: sit when placed; motor functions never achieved: holding head up without assistance, walking without assistance, or running; normal cognitive ability; diagnosis of centronuclear myopathy confirmed by muscle biopsy, skin biopsy, and genetic testing; myopathic nerve conduction velocity; myopathic EMG; absent deep tendon reflexes; biopsy at 3 months of age revealed central nuclei and fiber size variation but no type I fiber predominance and no increase in connective tissue or endomysial tissue; Sanger sequencing revealed compound heterozygous mutation in the TTN gene: c.15721+1G>A (full-length titin, NM_001267550.1) on intron 52 of the paternal allele - a predicted splice site variant, c.44998_45001del and c.106244delG frameshift mutations on the maternal allele; normal MRI/CT scan; normal echo; no ocular, cardiac or brain involvement; management: at 5 years, needed pulmonary aspiration and used oxygen support during the day, had combined oral and G-tube feeding since infancy; no trach tube; no family history of disease; subject is 979-1 in Neurology (2013) 81:1-10, PMID:23975875.

Publications

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Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH, Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy Neurology81:1205-14 2013
PubMed ID: 23975875

External Links

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Gene Cards TTN
Gene Ontology GO:0004601 peroxidase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004713 protein-tyrosine kinase activity
GO:0004896 hematopoietin/interferon-class (D200-domain) cytokine receptor activity
GO:0005524 ATP binding
GO:0005856 cytoskeleton
GO:0005975 carbohydrate metabolism
GO:0006468 protein amino acid phosphorylation
GO:0006941 striated muscle contraction
GO:0006942 regulation of striated muscle contraction
GO:0006979 response to oxidative stress
GO:0007517 muscle development
GO:0008307 structural constituent of muscle
GO:0016020 membrane
GO:0017022 myosin binding
GO:0030017 sarcomere
GO:0030018 Z disc
NCBI Gene Gene ID:7273
NCBI GTR 160150 MYOPATHY, CENTRONUCLEAR, 1; CNM1
188840 TITIN; TTN
OMIM 160150 MYOPATHY, CENTRONUCLEAR, 1; CNM1
188840 TITIN; TTN
Omim Description MYOPATHY, CENTRONUCLEAR
  MYOTUBULAR MYOPATHY

Culture Protocols

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Cumulative PDL at Freeze 4.9
Passage Frozen 2
Split Ratio 1:2
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 -
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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