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GM25596 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

15 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Ethnicity English/American Indian/Scottish
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 age 15; symptoms onset at birth; conception after low dose clomid therapy twice monthly; initial ultrasound at 11-12 weeks gestation noted twin gestation, but repeat ultrasounds triggered by pain at 28 weeks noted only 1 fetus; mother experienced significant nausea and vomiting during pregnancy; mother ran into electric fence during pregnancy; normal fetal movement; birth weight: 2722g (10th centile); length: 51 cm (75th centile) and OFC: 35.2 cm (70th centile) at day of life 6; presented day of life 4 with hypotonia, poor feeding, dehydration, jaundice, and elevated alkaline phosphatase of 293 IU,GGT of 802 IU (70-295),ALT 51 (6-50 IU/L), AST 56 (10-60 IU/L) ; at age 2 weeks ALT rose to 201 and AST to 236; at 10 weeks ALT was 200 and AST 236; did not feed well immediately after birth; osteopathic physician realigned overriding skull sutures, patient began eating better after this procedure; esotropia; lagophthalmous; plagiocephaly; anisocoria; hypotonia; dystonia; choreiform movements; delayed skeletal maturation; skeletal muscle atrophy; severe developmental delay; severe intellectual disability; microcephaly; cerebellar atrophy; no pincer grasp; deep reflexes hypoactive; non-verbal; seizure disorder; seizures began at age 10 with eyelid fluttering, eye deviation, and perioral cyanosis; severe axonal sensorimotor polyneuropathy with associated muscle wasting; erythematous perifollicular hyperkeratotic papules on all extremities; cyanosis below eyes and lips; constipation; malnutrition with low vitamin D levels; history of hepatomegaly; severe scoliosis; right hip subluxed; diffuse osteopenia; right femur and humerus dislocation; osteoporosis; somatic dysfunction of skull, membranous articular strain of the dura of the skull; reduced bone mineral density; bilateral coxa valga; takes very long time to wake up from anesthesia; transaminase levels elevated to the 300s; elevated serum creatine phosphokinase; increased resting energy expenditure; exaggerated cellular immune response; loss of sweat function in the distal leg limb, suggesting a length-dependent small fiber neuropathy; blink apraxia; exposure keratitis; inferior corneal thickening and inflammation; alacrima; neovascularization; ptosis; no synchronous activity though 8th cranial nerve; cannot recognize speech but can recognize the presence of sounds; dental enamel slightly different from others; bruxism; liver biopsy noted cirrhosis, yet was normalized by age 6-7; EMG/NCS noted severe axonal sensorimotor poly neuropathy, motor nerves may be slightly more affected than sensory; EEG found mild to moderate cerebral dysfunction; MRS found reduced brain N-acetyl aspartate levels and elevated brain choline levels; urine oligosaccharide analysis showed prominent species at m/z=991, a finding seen frequently in NGLY1-CDG individuals; exome sequencing (UCSC hg19) of the NGLY1 gene revealed that the donor is a compound heterozygote for the following mutations: maternally inherited c.347C>G (p.S116X) in exon 3 and paternally inherited c.881+5G>T (IVS5+5G>T) in intron 5, predicted to abolish the splice donor site of exon 5 causing abnormal gene splicing; donor subject is also heterozygous for the p.G531R mutation in the MYBPC3 gene associated with hypertrophic cardiomyopathy; rod placement in lower back due to scoliosis; pseudomonas wound infection from spinal fusion surgery; uses computer dinavox to communicate; scleral injections in both eyes; strabismus surgery at age 3; physical, occupational, and speech therapy; used nebulized albuterol and pulmicort after repeated bronchitis; keppra 1250 mg twice daily, miralax 17 g daily in AM, glycerin 1.5 g per rectum as needed, refresh PM 0.5 inch ribbon to both eyes once daily at bedtime, refresh eye drops 1-2 drops to both eyes as needed and daily; maternal aunt’s son has cerebral palsy; mother (GM25597 B-lymphocyte; GM26599 fibroblast) and father (GM25598 B-lymphocyte; GM26600 fibroblast) also in repository; see GM26598 for fibroblast; [Clinical information from publication by J. Heeley and M. Shinawi 2014 – PMID 25707956].

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.S116X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Identified Mutation c.347C>G
 
Gene NGLY1
Chromosomal Location 3p24.2
Allelic Variant 2 IVS5+5G>T; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Identified Mutation c.881+5G>T

Phenotypic Data

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Remarks Clinically affected; diagnosed at age 15; symptoms onset at birth; conception after low dose clomid therapy twice monthly; initial ultrasound at 11-12 weeks gestation noted twin gestation, but repeat ultrasounds triggered by pain at 28 weeks noted only 1 fetus; mother experienced significant nausea and vomiting during pregnancy; mother ran into electric fence during pregnancy; normal fetal movement; birth weight: 2722g (10th centile); length: 51 cm (75th centile) and OFC: 35.2 cm (70th centile) at day of life 6; presented day of life 4 with hypotonia, poor feeding, dehydration, jaundice, and elevated alkaline phosphatase of 293 IU,GGT of 802 IU (70-295),ALT 51 (6-50 IU/L), AST 56 (10-60 IU/L) ; at age 2 weeks ALT rose to 201 and AST to 236; at 10 weeks ALT was 200 and AST 236; did not feed well immediately after birth; osteopathic physician realigned overriding skull sutures, patient began eating better after this procedure; esotropia; lagophthalmous; plagiocephaly; anisocoria; hypotonia; dystonia; choreiform movements; delayed skeletal maturation; skeletal muscle atrophy; severe developmental delay; severe intellectual disability; microcephaly; cerebellar atrophy; no pincer grasp; deep reflexes hypoactive; non-verbal; seizure disorder; seizures began at age 10 with eyelid fluttering, eye deviation, and perioral cyanosis; severe axonal sensorimotor polyneuropathy with associated muscle wasting; erythematous perifollicular hyperkeratotic papules on all extremities; cyanosis below eyes and lips; constipation; malnutrition with low vitamin D levels; history of hepatomegaly; severe scoliosis; right hip subluxed; diffuse osteopenia; right femur and humerus dislocation; osteoporosis; somatic dysfunction of skull, membranous articular strain of the dura of the skull; reduced bone mineral density; bilateral coxa valga; takes very long time to wake up from anesthesia; transaminase levels elevated to the 300s; elevated serum creatine phosphokinase; increased resting energy expenditure; exaggerated cellular immune response; loss of sweat function in the distal leg limb, suggesting a length-dependent small fiber neuropathy; blink apraxia; exposure keratitis; inferior corneal thickening and inflammation; alacrima; neovascularization; ptosis; no synchronous activity though 8th cranial nerve; cannot recognize speech but can recognize the presence of sounds; dental enamel slightly different from others; bruxism; liver biopsy noted cirrhosis, yet was normalized by age 6-7; EMG/NCS noted severe axonal sensorimotor poly neuropathy, motor nerves may be slightly more affected than sensory; EEG found mild to moderate cerebral dysfunction; MRS found reduced brain N-acetyl aspartate levels and elevated brain choline levels; urine oligosaccharide analysis showed prominent species at m/z=991, a finding seen frequently in NGLY1-CDG individuals; exome sequencing (UCSC hg19) of the NGLY1 gene revealed that the donor is a compound heterozygote for the following mutations: maternally inherited c.347C>G (p.S116X) in exon 3 and paternally inherited c.881+5G>T (IVS5+5G>T) in intron 5, predicted to abolish the splice donor site of exon 5 causing abnormal gene splicing; donor subject is also heterozygous for the p.G531R mutation in the MYBPC3 gene associated with hypertrophic cardiomyopathy; rod placement in lower back due to scoliosis; pseudomonas wound infection from spinal fusion surgery; uses computer dinavox to communicate; scleral injections in both eyes; strabismus surgery at age 3; physical, occupational, and speech therapy; used nebulized albuterol and pulmicort after repeated bronchitis; keppra 1250 mg twice daily, miralax 17 g daily in AM, glycerin 1.5 g per rectum as needed, refresh PM 0.5 inch ribbon to both eyes once daily at bedtime, refresh eye drops 1-2 drops to both eyes as needed and daily; maternal aunt’s son has cerebral palsy; mother (GM25597 B-lymphocyte; GM26599 fibroblast) and father (GM25598 B-lymphocyte; GM26600 fibroblast) also in repository; see GM26598 for fibroblast; [Clinical information from publication by J. Heeley and M. Shinawi 2014 – PMID 25707956].

Publications

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Heeley J, Shinawi M, Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations American journal of medical genetics Part A167A:816-20 2014
PubMed ID: 25707956

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 1:6
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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