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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)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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

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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

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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

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NCBI GTR 615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
OMIM 615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

Culture Protocols

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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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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