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GM27573
LCL
from
B-Lymphocyte
Description:
PITT-HOPKINS SYNDROME; PTHS
Affected:
Yes
Sex:
Male
Age:
11
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
More than one race
Ethnicity
Not Hispanic/Latino
Ethnicity
White and Native Hawaiian/Other Pacific Islander
Country of Origin
NEW ZEALAND
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See Phenotypic Data tab.
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Gene
TCF4
Chromosomal Location
18q21.2
Allelic Variant 1
; PITT-HOPKINS SYNDROME
Identified Mutation
c.922+1G>A
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
11 YR
Sex
Male
Age at Diagnosis(If not a control)
7 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
More than one race
Country
NEW ZEALAND
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
A CLINICAL EXOME SEQUENCING STUDY REVEALED A PATHOGENIC MUTATION IN THE TCF4 GENE: C.922+1G>A
Zygosity:
Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
BIRTH
Age at Diagnosis:
7 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Strabismus
Coarse facies
Wide mouth
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Additional Information:
SQUARE FOREHEAD; BEAKED NASAL BRIDGE; FULL CHEEKS; DEEP SET EYES; BROAD NASAL BRIDGE; DOWNTURNED/POINTED NASAL TIP; HIGH CHEEK BONES
Neurological Symptoms
Hypertonia
Hypotonia
Seizures
Unstable gait
Additional Information:
CLONUS; UNSTABLE ATAXIC GAIT;
Optical and Audiological Symptoms
Defective vision
Musculoskeletal Symptoms
Additional Information:
LIMITED WALKING ABILITY; SLENDER/SMALL HANDS; SLENDER/SMALL FEET; FETAL PADS
Developmental Milestones
Additional Information:
ABSENT OR SPARSE SPEECH;DELAYED MOTOR DEVELOPMENT; INCOORDINATION
Gastrointestinal Symptoms
Constipation
Additional Information:
BOWEL EXPLOSIONS; GASTROESOPHAGEAL REFLUX
Genitourinary Symptoms
Additional Information:
SMALL PENIS
Respiratory and Cardiovascular Symptoms
Breathing irregularities
Additional Information:
ABNORMAL BREATHING PATTERNS; INTERMITTENT BREATHING; HYPERVENTILATION
Cognitive and Behavioral Symptoms
Happy personality
Anxiety
Autism spectrum disorder
Sensory processing disorder
Sleep disturbances
Additional Information:
INTELLECTUAL DISABILITY
Additional Information
Uncategorized Symptoms:
DRY SKIN
Testing Performed
Neurological Testing:
EEG TEST WAS NORMAL
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
Additional Testing:
WALKER; SURGERY: BILATERAL CACANEAL LENGTHENING WITH AN ILIAC CREST GRAFT
Medications
Family History
AN AFFECTED SISTER (GM27239) ALSO CARRIES THE SAME MUTATION; UNAFFECTED FATHER (GM27574) IS MOSAIC FOR THE TCF4 MUTATION, C.922+1G>A, FOUND IN ~3% OF HIS CELLS; MOTHER (GM27576) DOES NOT CARRY THE TCF4 MUTATION. OTHER UNAFFECTED FAMILY MEMBERS ARE BROTHERS GM27572 AND GM27575.
Remarks
See Phenotypic Data tab.
External Links
NCBI GTR
610954 PITT-HOPKINS SYNDROME; PTHS
OMIM
610954 PITT-HOPKINS SYNDROME; PTHS
Culture Protocols
Split Ratio
1:6
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
20% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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