Description:
PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ASHKENAZI
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Country of Origin
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USA
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Family Member
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2
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Family History
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Y
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Relation to Proband
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brother
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Confirmation
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Molecular characterization after 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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; presents with PMD-like symptoms; born after full term pregnancy with no complications to healthy, unrelated Ashkenazi Jewish parents; was irritable and "colicky" as an infant; never developed normal sleep patterns; did not develop motor milestones by age 3 months; subject was negative for storage and metabolic abnormalities; speech delay: non-verbal but able to understand and be receptive of language; severe visual impairment due to optic atrophy, but no abnormal eye movements; spasticity; dysphagia; severely exaggerated gag reflex; active bite reflex-often bit his own lower lip; severe reflux; severely underweight; vomited nearly daily, frequent GI illness; minimal pubertal development: onset of pubic hair, slight enlargement of penis, no facial hair and voice did not change; failure to thrive; reactive airway disease; died suddenly at age 17; Analysis of PCR-based automated fluorescent sequencing of the 5' untranslated region, the intron-exon junction, and the coding region of the GJA12 gene detected a heterozygous base change c.966G>C in the GJA12 gene that does not result in amino acid changes; no mutations in GJA12 that would result in amino acid changes were detected; no duplications or mutations of the PLP gene were detected using multiplex PCR amplification and PCR-based automated fluorescent sequencing; whole exome sequencing of DNA revealed no pathogenic mutations in PLP1, GJC2, AIMP1, HSPD1, FAM126A, TUBB4A, POLR3A, POLR3B, or ALC16A2; treatments included: H2 blockers, nebulized Albuterol, and Baclofen; deceased affected sister (GM22060, fibroblast). |
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