NA27461
DNA from Fibroblast
Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
FOXG1
PIGI Consented Sample |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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French; Ukraine; Scottish, American
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Country of Origin
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SWITZERLAND
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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 |
7.57 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.688C>T, p.Arg230Cys |
| Remarks |
Clinically affected; age of diagnosis at 1 years old; symptom onset at 3 months of age; microcephaly; axial hyptonia; epilepsy; developmental delay; cannot sit or stand independently; chewing problems with strong pharyngeal reflex; laughs or screams spontaneously; constipation; pronounced sleeping problems, though falls asleep quickly; EEG showed slow activity in some parts of the brain; MRI showed simplified gyral patterns but complete corpus callosum; exome sequencing of exon 1 and confirmation by Sanger sequencing revealed a likely pathogenic de novo heterozygous missense variant in FOXG1, c.688C>T (p.Arg230Cys) hg19 chr14:g.29237173C>T, and a de novo heterozygous nonsense variant in IQGAP2, C.2857C>T (p.Gln953*); array cGH revealed a duplication of 147 kb on chromosome 22, 22q12.3 (chr22:32,538,357 bp to 32,685,852 bp, GRCh37), arr(1-22)x2,(XY)x1; medications include omeprazole, laxipeg, valproate acid, and iron supplements; Management: physical therapy, occupational therapy, and speech language therapy; mother and father with no pathological sequence variant in exon 1 of FOXG1 are GM27243 and GM27242, respectively; lymph is GM27241. |
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