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GM28572
Fibroblast
from
Skin, Arm
Description:
HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP
Affected:
Yes
Sex:
Male
Age:
2
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
Arm
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Arm
Race
Asian
Subject Type
parent/child
Ethnicity
Indian
Country of Origin
AUSTRALIA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Biochemical characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected. Cognitive and language delay. De novo heterozygous mutation c.2212dupT (p.Ser738Phefs*6) in the ADNP gene. See "Phenotypic Data" Tab. See "Phenotypic Data" Tab
Characterizations
PDL at Freeze
6.85
Passage Frozen
2
Gene
ADNP
Chromosomal Location
20q13.13
Allelic Variant 1
p.Ser738Phefs*6; HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
Identified Mutation
c.2212dupT (p.Ser738Phefs*6)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
2 YR
Sex
Male
Age of Onset(If not a control)
6 MO
Age at Diagnosis(If not a control)
1 YR
Racial Category
Asian
Country
AUSTRALIA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
CLINICAL EXOME TRIO ANALYSIS REVEALED A MUTATION IN ADNP, C.2212DUPT: P.SER738PHEFS*6.
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
6 MONTHS
Age at Diagnosis:
1 YEAR AND 9 MONTHS
In Utero History Information
Additional Information:
POSTPARTUM DEPRESSION
Birth History Information
Difficulty breathing
Additional Information:
DID NOT CRY AT BIRTH & NEEDED RESUSCITATION; APGAR SCORES 6/10 AND 8/10 AT 1 AND 5 MINS; HAD MILDLY LOW SUGARS AND NEEDED SUPPLEMENTARY FORMULA; LETHARGIC; FEBRILE AND ABSENT SEIZURES; BREATH HOLDING SPASMS W/ UNCONSCIOUSNESS AT 3 MONTHS OF AGE (NOT ANY MORE SINCE 19 MONTHS OF AGE)
Dysmorphic Features
Strabismus
Hypotelorism
Additional Information:
LOW HAIR LINE; INVERTED V SHAPED UPPER LIP; LOW SET EARS
Neurological Symptoms
Seizures
Unstable gait
Additional Information:
EPISODES OF FEBRILE SEIZURE AT 6 AND 8 MONTHS; EPISODE OF ABSENCE SEIZURE AT THE AGE OF 15 MONTHS; CORTICAL CYSTS
Optical and Audiological Symptoms
Congenital exotropia
Additional Information:
USES SIGN LANGUAGE AND PECS; EXOTROPIA PRESENT WITH NORMAL VISION
Musculoskeletal Symptoms
Additional Information:
RESTRICTED FLEXION AND EXTENSION AT KNEES AND ANKLES WITH WIDE GAIT.
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Holding Head Up Without Assistance:
Achieved and maintained
Sitting Without Assistance:
Achieved and maintained
Walking Without Assistance:
Achieved and maintained
Additional Information:
INTELLECTUAL DELAYS EARLY INTERVENTION FOR DEVELOPMENTAL DELAYS PROGRESSING REMARKABLY IN GROSS MOTOR ABILITIES IMPROVING FINE MOTOR AND VISOU-MOTOR ABILITIES LEARNING RUNNING AND JUMPING
Gastrointestinal Symptoms
Additional Information:
FOOD INTOLERANCE; CHOKING; FOOD SENSITIVITIES WITH ELIMINATION DIET
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Breathing irregularities
Additional Information:
BREATH HOLDING SPASMS CAUSING UNCONSCIOUSNESS UP TO THE AGE OF 19 MONTHS
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Additional Information:
ORAL SENSORY SEEKING; EXPRESSES ANGER BY CLENCHING AND TIGHTENING HIMSELF WITH CRYING AND SCREAMING; FLAPS HANDS AND BOUNCES WHEN HAPPY; HAS THE PRESENCE OF AUTISM LIKE FEATURES NEED TO HAVE SOMEONE AROUND HIM ALL THE TIME; DEPENDENT ON HIS CARE GIVERS FOR ALL ACTIVITIES OF DAILY LIVING
Additional Information
Uncategorized Symptoms:
ECZEMA; FOOD ALLERGIES
Testing Performed
Neurological Testing:
NORMAL EEG; MRI SHOWED CORTICAL CYSTS
Optical and Audiological Testing:
EXOTROPIA PRESENT WITH NORMAL VISION; PLAY BASED AUDIOMETRY - NORMAL HEARING
Respiratory and Cardiovascular Testing:
2DECHO (NORMAL)
Cognitive and Behavioral Testing:
PLAY BASED ASSESSMENT
Metabolic, Hematologic, and Endocrinologic Testing:
THYROID SCREENING (NORMAL); RENAL FUNCTION (NORMAL)
Uncategorized Testing:
ALLERGY TESTING
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Medications
EPI-PEN TO TREAT ALLERGIES ELIMINATION DIET
Family History
Remarks
Clinically affected. Cognitive and language delay. De novo heterozygous mutation c.2212dupT (p.Ser738Phefs*6) in the ADNP gene. See "Phenotypic Data" Tab. See "Phenotypic Data" Tab
External Links
NCBI GTR
615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
OMIM
615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
Culture Protocols
Cumulative PDL at Freeze
6.85
Passage Frozen
2
Split Ratio
1:5
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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