GM26596
Fibroblast from Skin, Arm
Description:
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
German/French/Canadian/Mixed European
|
|
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
|
|
| PDL at Freeze |
4.29 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| 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 |
- |
|
|