NA27203

NA27203 DNA from LCL

Description:

PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Ethnicity

Dutch

Country of Origin

CANADA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; Pathogenic frameshift variant detected using Ambry Genetics Intellectual Disability Panel in the TCF4 gene - c.469delC (p.Arg157Glufs*77); premature delivery at 35 weeks and 3 days; absent sparse speech; hypotonia; delayed motor development; unstable ataxic gait; incoordination; square forehead; broad nasal bridge; wide open mouth; widely spaced teeth; cupped ears; fetal pads; occasional constipation; happy personality; sensory processing disorder; behavioral problems; wheelchair; communication learning device; wears glasses; physical therapy; occupational therapy; speech language therapy; special education services. Unaffected mother GM27205 (lymph) and GM27206 (fibro), Unaffected father GM27207 (lymph) and GM27208 (fibro).