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GM26595 LCL from B-Lymphocyte

Description:

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Cell Type B-Lymphocyte
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
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 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 GM26596 for fibroblast.

Characterizations

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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

Phenotypic Data

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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 GM26596 for fibroblast.

External Links

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Gene Cards NGLY1
NCBI GTR 610661 N-GLYCANASE 1; NGLY1
615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
OMIM 610661 N-GLYCANASE 1; NGLY1
615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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