GM26580

GM26580 Fibroblast

Description:

PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

More than one race

Ethnicity

Not Hispanic/Latino

Ethnicity

European & Native American

Country of Origin

USA

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; onset of symptoms at birth; diagnosed at 9 months of age; square forehead; broad nasal bridge; short philtrum; wide open mouth; tented/cupid bowed upper lip; widely spaced teeth; high arched palate; slender/small hands and feet; clinodactyly; simian crease; pes planus; hyperpigmentation; agenesis/hypoplasia of Corpus Callosum; structural brain anomalies include central white matter volume loss and delayed myelination; absent or sparse speech; hypotonia; limited walking ability; unstable/ataxic gait; defective vision; abnormal breathing patterns; intellectual disability; stereotypical movements; sequencing found c.1726C>T (p.Arg576X) mutation in TCF4 gene; assistive devices: walker; treatment and management: physical and speech therapy; Same individual as GM26258 (LCL)