Description:
FETAL AKINESIA DEFORMATION SEQUENCE; FADS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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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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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; pregnancy terminated at 20 fetal weeks; flexion deformities at all joints; rocker-bottom feet; on fetal autopsy the following findings were noted: gross brain: brain weight of 20.0 g (normal for age); microscopic brain: lumbar cord – paucity of anterior horn cells with some clustering towards the periphery of the grey matter and unmeylinated nerve roots (due to prematurity), thoracic cord and cervical cord – paucity of anterior horn cells in irregular clusters, periventricular region including basal ganglia – small amount of intraventricular blood present, dura – small amount of hemorrhage attached to dura; amniotic fluid karyotype: 46,XY; affected brother with the following: dysmorphic features (low set, large ears with hypoplastic lobules, high arched palate, plagiocephaly, long tapering digits with fixed flexion of 4th and 5th bilaterally, absent palmar creases, bilateral talipes equinovarus, thoracic scoliosis, asymmetrical chest); arthrogryposis (severe flexural contractures involving all limbs symmetrically); hypoplasia of skeletal muscle due to neurogenic atrophy; petechial hemorrhages over head and neck; died within 5 ½ hours of delivery; paucity of anterior horn cells noted on autopsy for both donor subject and affected brother. |
| Jühlen R, Martinelli V, Vinci C, Breckpot J, Fahrenkrog B, Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts Scientific reports10:19301 2020 |
| PubMed ID: 33168876 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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