GM28386

GM28386 Fibroblast from Skin, Labialscrotal fold

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

Biopsy Source

Labialscrotal fold

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Labialscrotal fold

Race

White

Ethnicity

Not Hispanic/Latino

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; see "Phenotypic Data" tab; lymph is GM28387; mother is GM28388 (fibro) and GM28389 (lymph); father is GM28390 (fibro) and GM28391 (lymph).

Characterizations

PDL at Freeze

6.9

Passage Frozen

Gene

TCF4

Chromosomal Location

18q21.2

Allelic Variant 1

602272.1; PITT-HOPKINS SYNDROME; PTHS

Identified Mutation

c.1726C>T (p.Arg576Ter)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

6 YR

Sex

Male

Age at Diagnosis(If not a control)

5 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

NEXT GENERATION SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS AUTOSOMAL DOMINANT PATHOGENIC VARIANT (C.1726C>T) IN EXON 18 IN THE TCF4 GENE (NM_001083962.1) RESULTING IN A NONSENSE MUTATION (P.ARG576TER); ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19.

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Hypotonia

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Additional Information:

JOINT HYPERMOBILITY; BILATERAL FOOT PRONATION; BILATERAL PES PLANUS; RIGHT FOOT TURNING OUT

Developmental Milestones

Delayed speech and language development
Global developmental delay

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Learning disability

Additional Information

Testing Performed

Treatments and Assistive Devices

Orthotics

Surgeries

BILATERAL ORTHOTICS

Medications

Family History

Remarks

Clinically affected; see "Phenotypic Data" tab; lymph is GM28387; mother is GM28388 (fibro) and GM28389 (lymph); father is GM28390 (fibro) and GM28391 (lymph).