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NA27967 DNA from LCL

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

Affected:

Yes

Sex:

Female

Age:

2 YR (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 Bosnian
Country of Origin USA
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 Clinically affected; "See Phenotypic Data Tab"; fibro is GM27963; unaffected mother is GM27961 (fibro) and GM27962 (LCL) and unaffected father is GM27967 (fibro) and GM27980 (LCL).

Characterizations

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Gene CHAMP1
Chromosomal Location 13q34
Allelic Variant 1 616327.1; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Identified Mutation c.542_543delCT (p.S181Cfs*5)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 2 YR
Sex Female
Age of Onset(If not a control) 9 MO
Age at Diagnosis(If not a control) 2 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:  CLINICAL EXOME SEQUENCING REVEALED A PATHOGENIC HETEROZYGOUS DE NOVO FRAMESHIFT VARIANT IN EXON 3 OF THE CHAMP1 GENE (NM_001164144.1, CHR13:115089859): C.542_543DELCT (P.SER181CYSFSX5); THE NORMAL SEQUENCE WITH THE BASES THAT ARE DELETED IN BRACKETS IS GCCT[DELCT]GTTT
Zygosity:  Heterozygous
Other variants:  COPY NUMBER VARIANT (CNV) ANALYSIS: THERE IS NO CLINICALLY RELEVANT DELETION OR DUPLICATION OF THREE OR MORE EXONS IN THE NEXT GENERATION SEQUENCING DATA FOR THIS PROBAND
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  9 MONTHS
Age at Diagnosis:  2 YEARS - DIAGNOSED AT BY A GENETICIST
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:  UMBILICAL HERNIA, FRONTAL BOSSING, EPICANTHAL FOLDS, UPSLANTED PALPEBRAL FISSURES, WIDE FLAT NASAL BRIDGE, HIGH NARROW PALATE, CROWDED TEETH; SMALL FEET
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:  LOW MUSCLE TONE
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:  FREQUENT EAR AND EYE INFECTIONS; BILATERAL EXOTROPIA
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:  BRACHYDACTYLY, SMALL FEET
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:  COGNITIVE IMPAIRMENT, ABSENT SPEECH
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:  No Data
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:  OTHER THERAPY: PLAY THERAPY SURGERIES: STRABISMUS SURGERY; EAR TUBES; REMOVAL OF ADENOIDS
Medications
 No Data
Family History
 EXOME SEQUENCING RESULTS DEMONSTRATE THAT THIS PROBAND'S MOTHER (GM27961, GM27962) AND FATHER (GM27968, GM27980) DO NOT HARBOR THE P.S181CFSXF VARIANT IN THE CHAMP1 GENE, THOUGH GERMLINE MOSAICISM CANNOT BE EXCLUDED; FATHER IS POSITIVE FOR FACTOR V LEIDEN

External Links

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Gene Cards CHAMP1
NCBI GTR 616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
OMIM 616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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