Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
PHOSPHOMANNOMUTASE 2; PMM2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Armenian
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before 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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| PDL at Freeze |
3.45 |
| Passage Frozen |
13 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 1 |
601785.0001; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
ARG141HIS; In a family in Sicily in which linkage studies indicated mapping of CDG1 to 16p13, Matthijs et al. (Nature Genet 16:88-92, 1997) found that affected individuals were compound heterozygotes for a 425G-A transition (R141H) and a 647A-T transversion (N216I; 601785.0002) in the PMM2 gene.
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 1 |
601785.0002; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
ASN216ILE; See 601785.0001 and Matthijs et al. (1997).
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| Remarks |
Cells are fibroblasts obtained through skin biopsy; Cells derived from a one-year old male patient, currently 5 years old; Patient is diagnosed by geneticist with PMM2-Congenital Disorder of Glycosylation Type Ia; Patient is compound heterozygous for two mutations in the PMM2 gene: PMM2, c.422G>A (p.Arg141His), Exon5, heterozygous, paternally-inherited, and PMM2 c.647A>T (p.Asn216Ile), Exon8, heterozygous, maternally-inherited; Chromosomal microarray is normal; Patient symptoms include: global developmental delay, oculomotor apraxia, cerebellar hypoplasia, feeding difficulties, abnormal coagulation, muscle weakness, ataxia, strabismus, growth hormone deficiency, cerebellar hypoplasia, eczema, hypothyroidism, iron deficiency, transaminitis, weekly episodes of epistaxis, mild myopia; Treatment includes: physical therapy, occupational therapy, speech language therapy, Levothyroxine, Synthroid, Ensure supplements, and Strabismus surgery; Management includes: prescriptive corrective lenses, wheelchair; Father is GM27389 (fibroblast); Mother is GM27390 (fibroblast). |
| Zhong M, Balakrishnan B, Guo AJ, Lai K, AAV9-based Molecular genetics and metabolism reports38:101035 2024 |
| PubMed ID: 38130891 |
| Passage Frozen |
13 |
| 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 |
- |
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