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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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Scottish, German
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Country of Origin
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USA
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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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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 |
9.53 |
| Passage Frozen |
2 |
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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 |
; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
c.415G>A (p.E139K) |
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 1 |
601785.0001; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia |
| Identified Mutation |
c.422G>A (p.R141H) |
| Remarks |
Clinically affected; diagnosed at 9 months of age; onset of symptoms at birth; born 38 weeks via C-section; mother had borderline gestational diabetes and two prior miscarriages; decreased fetal movement; torticollis at first week of life; axial hypotonia; tongue fasciculation; absent reflexes; areflexia; developmental delay; decreased deep tendon reflexes; patent foramen ovale; interrupted IVC with azygous return in right aortic arch with aberrant left subclavian; venous anomalies; muscle weakness; liver 1 cm below the costal margin; 2/6 systolic murmur; inverted nipples; mild head control; head lag; tapered fingers; positive stepping reflex; negative moro reflex; fontanel is fingertip in size; mild plagiocephaly noted; dysarthria; strabismus; difficulty chewing and or swallowing; severe central sleep apnea with mild hypoxemia; assistive devices include: wheelchair, orthotics; gene sequencing revealed two heterozygous pathogenic variants in the PMM2 gene on exon 5: c.415G>A(p.E139K) and c.422G>A(p.R141H); one variant was inherited from each parent; treatment and management include: physical therapy, occupational therapy, and speech therapy; family history: sister passed way early from truncus arteriosus, mother has a history of post-traumatic stress disorder (PTSD), father has history of anxiety and ADHD, paternal uncle was delivered prematurely and has developmental disabilities and cognitive impairment; no consanguinity; no other family members are in repository. |
| Zhong M, Balakrishnan B, Guo AJ, Lai K, AAV9-based Molecular genetics and metabolism reports38:101035 2024 |
| PubMed ID: 38130891 |
| Cumulative PDL at Freeze |
9.53 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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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