Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
PHOSPHOMANNOMUTASE 2; PMM2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Scottish, German
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
9.53 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 1 |
; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
c.415G>A (p.E139K) |
| |
| 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 2023 |
| 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 |
- |
|
|