Name：NTCC? NA25389 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25389
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 21 YR
Gender性別: Female
Description描述: CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
Remarks: Clinically affected; diagnosed at age 20; symptom onset at 4 months; poor growth in utero; repetitive, unilateral fetal movements; urinary tract infection during 3rd trimester of pregnancy; no known maternal exposures to teratogens; C-section; abnormal placenta; abnormal birth weight and length despite 39 week gestation; exotropia; cafe au lait spot; global developmental delay; delayed fine motor development; severe intellectual disability; knows approximately 10 words and signs; hypotonia; ataxia; movement disorder; can stand and walk with support; absent reflexes; dystonia and chorea; peripheral neuropathy; cerebellar hypoplasia; ventriculomegaly; enlarged cisterna magna; cerebral cortical atrophy; enlarged pituitary gland; scoliosis; osteoporosis with history of fractures; recent increase in fractures; osteopenia; visual impairment; dry eyes; myopia; astigmatism; ocular apraxia; conjunctiva inflamed; dysconjugate gaze; corneal scarring; blepharitis; abnormality of optic nerve; hypolacrima; increased intraocular pressure; history of ezcema; previously unable to sweat, able to sweat as of 2013; reactive airway disease; sinus tachycardia; low blood pressure; constipation; moderate obstructive sleep apnea with mild desaturations; unspecified testing by neurologist showed significantly elevated transaminases up to 1200 and microcephaly; sural nerve biopsy; overnight EEG; whole exome sequencing identified homozygous mutation (c.1370dupG) in exon 9 of NGLY1 gene which results in p.R458fs; heterozygous carrier for mutation (c.175C>T) in exon 3 of GNE gene; requires breathing support when sedated due to underlying hypotonia; sweat test indicated absent sweat response in legs but normal response in forearms; EMG/nerve conduction study showed severe axonal sensorimotor neuropathy with motor nerves more severely affected than sensory nerves; brain MRI indicated small cerebellum; MRS indicated NAA levels low in cerebellum and pons, small upper cervical spinal cord; cerebral spinal fluid lab tests showed low albumin, IgG, and CSF protein at 9 mg/dL (15-45 mg/dL normal range); elevated blood lactate levels at 4 months were 3.9 mmol/l and at 1 year were 2.7 mmol/l (normal <2.2 mmol/l); OAE showed grossly abnormal ABR, suggesting auditory signal at brainstem is dyssynchronous; abdomin ultrasound showed inhomogeneous texture of liver suggesting diffuse liver disease; urine amino acids detected pattern of marked generalized amino aciduria indicative of renal tubulopathy; palmidronate therapy; atenolol 18 mg daily; restasis 0.05% 1 drop daily; refresh cream 1 strip in both eyes daily; vitamin D3 3,000 units twice daily; calcium acetate 500 mg once daily; has not received shingles vaccine; occupational, physical, and speech therapy; uses bilateral AFOs and a wheelchair; unaffected mother (GM25390) and father (GM25391) also in repository; for fibroblast from same subject, see GM26590. [see Patient 2 in publication by Enns et al. 2014 - PMID 24651605]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: NGLY1
Disease疾病類型:
Mutations突變: c.1370dupG, R458FsTER
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

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