GM26596
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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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German/French/Canadian/Mixed European
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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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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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 |
4.29 |
| Passage Frozen |
4 |
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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 |
p.W535X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
| Identified Mutation |
c.1604G>A |
| |
| Gene |
NGLY1 |
| Chromosomal Location |
3p24.2 |
| Allelic Variant 2 |
p.L637X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
| Identified Mutation |
c.1910delT |
| Remarks |
Clinically affected; diagnosed at 5 years; symptoms onset at birth; pregnancy complicated by contractions at 30 weeks secondary to maternal urinary tract infection treated with antibiotics with subsequent positive fetal fibronectin testing; decreased fetal movement noted between 30-32 weeks gestation; born at 34 weeks via C-section due to fetal bradycardia (60-70 bpm x 6 minutes); oligohydramnios; abnormal birth weight, length, and head circumference; absence of right kidney; facial dysmorphology with overlying sutures noted at birth, originally attributed to birth position; posterior hair whorl; low posterior hair line; abnormal face shape; lagophthalmos; global developmental delay; delayed gross and fine motor development; intellectual disability; mild enlargement of the extra-axial CSF spaces in the supratentorial brain that may represent benign enlargement of the subarachnoid spaces; abnormality of peripheral nerve conduction; sleep disturbances; bruxism; non-verbal; intractable epilepsy (akinetic, myoclonus, GTC); choreoathetoid; hypotonia; difficulty walking and sitting; chronic stridor; hip subluxation; osteopenia; exaggerated cellular immune response; constipation; abnormality of cornea, retina, and optic nerve; ptosis; alacrima; anisocoria; deafness; vocal cord paralysis; laryngomalacia exacerbated by gastrointestinal reflux; GERD; daily projectile vomiting during first year of life; uncoordinated chewing and swallowing; history of elevated transaminases; elevated creatine kinases; hypohidrosis; EEG abnormality and generalized slow activity; neuroimaging showed large cerebellar vermis and abnormal brainstem morphology; MRS showed reduced brain N-acetyl aspartate levels and elevated brain choline levels; skeletal imaging showed abnormality of calvarial morphology, upper limb, pelvic girdle bone morphology, and coxa valga; genetic testing revealed maternally inherited mutation (c.1604G>A) in the NGLY1 gene resulting in p.W535X, paternally inherited mutation (c.1910delT) in the NGLY1 gene resulting in p.L637X, maternally inherited hemizygous mutation in the EDA gene resulting in R69L associated with x-linked hypohidrotic ectodermal dysplasia, paternally inherited heterozygous mutation in the RET gene resulting in R813Q associated with sporadic short-segment Hirschsprung, and paternally inherited heterozygous mutation in SIX5 gene resulting in T552M associated with cervical fistula, renal agenesis/hypoplasia/hearing loss; tracheostomy placement in 2011; Nissen and g-tube placement at 16 months old; depakote 150/150/200 mg g-tube 3 times daily; clobazam 5 mg/6.25 mg g-tube; mother (GM26597) is also in the repository; see GM26595 for B-lymphocyte. |
| 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 |
4 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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