GM26586
Fibroblast from Skin, Arm
Description:
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Arm
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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, Arm
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Race
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White
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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sibling
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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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| PDL at Freeze |
5.75 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
NGLY1 |
| Chromosomal Location |
3p24.2 |
| Allelic Variant 1 |
610661.0002; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
| Identified Mutation |
ARG401TER; For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG; 615273) by Need et al. (2012), see 610661.0001. |
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| Gene |
NGLY1 |
| Chromosomal Location |
3p24.2 |
| Allelic Variant 2 |
610661.0002; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
| Identified Mutation |
ARG401TER; For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG; 615273) by Need et al. (2012), see 610661.0001. |
| Remarks |
Clinically affected; onset of symptoms at birth; diagnosed at 2 years old; decreased fetal movement; abnormal birth weight, length, and head circumference; failure to thrive; high nasal bridge with anteverted nares; ears posteriorly rotated; mild retrognathia; tented upper lip; down turned corners of mouth; high-arched palate; conjunctival erythema in a horizontal band located around the site where the upper and lower eyelids meet; abdominal distention in infancy; global developmental delay; diagnosed with larygomalcia at 6 months; rolled over at 12 months, sat unpropped for 5 minutes at 13 months old, began to pull up to stand and cruise at age 3; elevated transaminases as an infant; paralyzed vocal cords; GERD; severe reflux; constipation; organic aciduria; corneal scarring; hypolacrima; hypohydrosis; optic disk pallor; auditory neuropathy spectrum disorder; obstructive sleep apnea; weakness in extremities and trunk; hypotonic; diminished reflexes; ataxia; chorea; significantly delayed in all gross and fine motor skills, speech, and cognitive function; absent pincer grasp; severe intellectual disability; delayed skeletal maturation; tracheomalacia; dysmetria; choreiform movements induced by change in position; liver shows slight fatty texture; non-ambulatory; deafness due to problems processing stimulus; asthma; increased serum pyruvate and lactate; concentrations of homovanillic acid and tetrahydrobiopterin below reference ranges; decreased resting energy expenditure and plasma carnitine; hepatic steatosis; exaggerated cellular immune response; hyperammonemia; exome analysis showed a homozygous nonsense mutation (c.1201A>T) in the NGLY1 gene that resulted in p.R401X; NIHFA score is 6/24; MRI showed mild deficit of NAA in the left centrum semiovale and pons and mild mucosal inflammation involving most of the paranasal sinuses; EMG found sensorimotor neuropathy with axonal and demyelinating features; QSWEAT found abnormal sweat response most likely related to peripheral neuropathy; cranial nerve studies found abnormalities in optic nerve; auditory evaluation found that processing/coding of sound in the auditory neural tracts of the brainstem are disorganized; skeletal imaging showed abnormality of the vertebral column, kyphosis, osteopenia, and coxa valga; abnormal muscle biopsy; physical therapy; occupational therapy; medications include omeprazole 10 mg PO twice a day, miralax 1 teaspoon daily in AM, refresh ointment as needed, carnitine 100 mg 3 times daily, ubiquional 100 mg 3 times daily; wheelchair; affected sibling (GM26584 fibroblast) and unaffected mother (GM26587 B-lymphocyte) and father (GM26588 B-lymphocyte) also in repository; for B-lymphocyte see GM26585. |
| Hirayama H, Tachida Y, Fujinawa R, Matsuda Y, Murase T, Nishiuchi Y, Suzuki T, Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity The Journal of biological chemistry300:107121 2023 |
| PubMed ID: 38417795 |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| 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 |
- |
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