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NA27988 DNA from LCL

Description:

ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)
THAP DOMAIN CONTAINING 12

Affected:

Yes

Sex:

Female

Age:

22 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Ethnicity German, English, Scottish
Country of Origin USA
Family Member 2
Family History N
Relation to Proband sister
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks See Phenotypic Data Tab. Fibroblast is GM27990; affected sister is GM27991 (LCL) and GM27993 (fibro); mother is GM27994 (LCL) and GM27995 (fibro); father is GM27996 (LCL), GM27997 (fibro).

Characterizations

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Gene THAP12
Chromosomal Location 11q13.5
Allelic Variant 1 p.Glu105AsnfsTer2; ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)
Identified Mutation c.312delA (p.Glu105AsnfsTer2)
 
Gene THAP12
Chromosomal Location 11q13.5
Allelic Variant 2 p.Pro277Thr; ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)
Identified Mutation c.829C>A (p.Pro277Thr)

Phenotypic Data

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Demographic Data
Relation to Proband sister
Age at Sampling 22 MO
Sex Female
Age at Diagnosis(If not a control) 6 WK
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:  WHOLE GENOME SEQUENCING REVEALED COMPOUND HETEROZYGOUS AUTOSOMAL RECESSIVE MUTATIONS IN THAP12 INHERITED IN TRANS: PATERNALLY INHERITED MISSENSE VARIANT C.829C>A (P.PRO277THR), 11:76352321; MATERNALLY INHERITED FRAMESHIFT VARIANT IN EXON 3 C.312DELA (P.GLU105ASNFSTER2), 11:76360961 (NM_004705). READS WERE ALIGNED TO HUMAN GENOME BUILD 38 (HG38).
Zygosity:  Compound Heterozygous
Other variants:  No Data
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  No Data
Age at Diagnosis:  6 WEEKS
In Utero History Information
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
Additional Information:  No Data
Birth History Information
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
Additional Information:  No Data
Dysmorphic Features
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
Additional Information:  No Data
Neurological Symptoms
Neuropathy:  No Data
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
Additional Information:  HYPOTONIA IS SEVERE; INFANTILE SPASMS BEFORE 3 MONTHS OF AGE; HYPSARRHYTHMIA; FOCAL EPILEPSY PRESENTING AS APNEIC EPISODES; INVOLUNTARY FACIAL MOVEMENTS; LACK OF MOTOR PLANNING
Optical and Audiological Symptoms
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
Additional Information:  CORTICAL VISUAL IMPAIRMENT
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:  UNABLE TO GAIN HEAD CONTROL, CORE CONTROL, OR WEIGHT BEARING THROUGH LIMBS
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
Holding Head Up Without Assistance:  No Data
Sitting Without Assistance:  No Data
Walking Without Assistance:  No Data
Running:  No Data
Additional Information:  No Data
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:  FEEDING DIFFICULTIES WITH DYSPHAGIA; G-TUBE DEPENDENCE
Genitourinary Symptoms
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
Additional Information:  No Data
Respiratory and Cardiovascular Symptoms
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
Additional Information:  No Data
Cognitive and Behavioral Symptoms
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
Intellectual Disability:  No Data
Additional Information:  No Data
Additional Information
Uncategorized Symptoms:  No Data
Testing Performed
Neurological Testing:  No Data
Optical and Audiological Testing:  No Data
Musculoskeletal and Developmental Testing:  No Data
Respiratory and Cardiovascular Testing:  No Data
Cognitive and Behavioral Testing:  No Data
Metabolic, Hematologic, and Endocrinologic Testing:  No Data
Uncategorized Testing:  No Data
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
Surgeries  No Data
Additional Testing:  G-TUBE
Medications
 HIGH DOSE STEROID (ACTH) CLEARED INFANTILE SPASMS AND HYPSARRHYTHMIA, WHICH RELAPSED AFTER COMPLETION OF TREATMENT
Family History
 SISTER (GM27991, GM27993) HAS SAME CONDITION; MUTATIONS INHERITED FROM THE PARENTS (GM27994, GM27995, GM27996, GM27997). NO OTHER FAMILY HISTORY IN PAST GENERATIONS.

External Links

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Gene Cards THAP12
Gene Ontology GO:0003677 DNA binding
GO:0006445 regulation of translation
GO:0006950 response to stress
GO:0007165 signal transduction
GO:0008285 negative regulation of cell proliferation
GO:0046983 protein dimerization activity
NCBI Gene Gene ID:5612
NCBI GTR 606369 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
607374 PRKR INHIBITOR, REPRESSOR OF; PRKRIR
OMIM 606369 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
607374 PRKR INHIBITOR, REPRESSOR OF; PRKRIR
Omim Description ENCEPHALOPATHY OF CHILDHOOD
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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