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GM29342
Fibroblast
Description:
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D
ENOYL-COA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1
Affected:
Yes
Sex:
Male
Age:
2
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Race
White
Ethnicity
Not Hispanic/Latino
Ethnicity
Swedish, German, Irish
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See "Phenotypic Data" tab. Mother is GM29340, father is GM29337 (LCL) and GM29405 (fibroblast). Unaffected siblings are GM29336 and GM29339.
Characterizations
PDL at Freeze
5.43
Passage Frozen
2
Gene
ECHS1
Chromosomal Location
10q26.3
Allelic Variant 1
602292.p.Gly175Se
; Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - ECHS1
Identified Mutation
c.523G>A (p.Gly175Ser)
Gene
ECHS1
Chromosomal Location
10q26.3
Allelic Variant 2
Ala>Thr; Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - ECHS1
Identified Mutation
c.664G>A (p.Ala222Thr)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
2 YR
Sex
Male
Age at Diagnosis(If not a control)
2 YR
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:
ECHS1: C.523G>A (P.GLY175SER) - EXON 5 (NM_004092.3) ECHS1: C.664G>A (P.ALA222THR) - EXON 6 (NM_004092.3)
Zygosity:
Compound Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age at Diagnosis:
2 YEARS
In Utero History Information
Birth History Information
Difficulty breathing
Caesarian section
Additional Information:
ANKYLOGLOSSIA AT BIRTH BUT CORRECTED
Dysmorphic Features
Neurological Symptoms
Hypertonia
Unstable gait
Basal ganglia damage
Additional Information:
MILD AXIAL AND APPENDICULAR HYPERTONIA; MANIFESTATIONS OF LEIGH SYNDROME
Optical and Audiological Symptoms
Defective hearing
Additional Information:
LOSS OF HEARING AT HIGH FREQUENCIES
Musculoskeletal Symptoms
Additional Information:
SPASTICITY IN LIMBS; PEDIATRIC EQUINUS; SPASTIC DIPLEGIA; UNSTEADY GAIT; MIXED TONE AND HYPEREXTENSION OF LEG;
Developmental Milestones
Delayed speech and language development
Running:
Not achieved and not maintained
Gastrointestinal Symptoms
Additional Information:
PROTEIN AND FAT RESTRICTED DIET; TAKES DIET SUPPLEMENT
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Heart murmur
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Neurological Testing:
MRI: SYMMETRICAL FLAIR HYPERINTENSITY IN THE LENTIFORM AND CAUDATE NUCLEI BILATERALLY WITHOUT RESTRICTED DIFFUSION.
Respiratory and Cardiovascular Testing:
NORMAL ECHO WITH NOTED MURMUR
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
Medications
MITO MIX, NAC, LIPOIC ACID, B COMPLEX, COQ10
Family History
Remarks
See "Phenotypic Data" tab. Mother is GM29340, father is GM29337 (LCL) and GM29405 (fibroblast). Unaffected siblings are GM29336 and GM29339.
External Links
Gene Cards
ECHS1
Gene Ontology
GO:0004300 enoyl-CoA hydratase activity
GO:0005739 mitochondrion
GO:0006091 energy pathways
GO:0006631 fatty acid metabolism
GO:0006635 fatty acid beta-oxidation
GO:0016829 lyase activity
NCBI Gene
Gene ID:1892
NCBI GTR
602292 ENOYL-CoA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1
616277 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
OMIM
602292 ENOYL-CoA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1
616277 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
Culture Protocols
Cumulative PDL at Freeze
5.43
Passage Frozen
2
Split Ratio
1:5
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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