Description:
PITT-HOPKINS SYNDROME; PTHS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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Italian, Scottish, French, English, Irish
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
TCF4 |
| Chromosomal Location |
18q21.2 |
| Allelic Variant 1 |
Frameshift; PITT-HOPKINS SYNDROME; PTHS |
| Identified Mutation |
Arg262ProfsX3 (c.784-785insCA) |
| Remarks |
Clinically affected; onset of symptoms at 6 months; diagnosed at 2.5 years; mild dysmorphic features: slightly triangular face and small chin; microcephaly; cortical visual impairment; amblyopia (left eye); exotropia; staring spells; hypotonia; limited walking ability; constipation; global developmental delay; happy disposition; developmental milestones: first rolled over at 5 months old (but lost ability at 6 months until 12 months), could sit with support by 12 months of age; able to pull stand at 2.5 years, but not walking independent of a PT walker; unable to feed herself at 2.5 years; started to babble at 7 months old, at 2.5 years, non-verbal and with basic receptive language abilities; brain MRI and EEG at 3 years were normal; heterozygous for a de novo novel variant in the TCF4 gene: c.784_785insCA (p.Arg262ProfsX3) (human genome build GRCh37/UCSC hg19); medications/supplements: magnesium hydroxide, ergocalciferol (Vit D2), lactobacillus combo no.11, omega-3s/dha/epa/fish oil, surgeries: bilateral lateral rectus recession, left medial rectus resection, tympanostomy tubes (bilateral); assistive devices: walker; glasses; therapies: occupational, physical, and speech; family history: male maternal cousin with intermittent exotropia and delayed walking-developmentally normal at 5 years of age; female first cousin-once removed with epilepsy diagnosed in her 20s-seizures controlled with medication. |
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