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NA28021 DNA from Fibroblast

Description:

LEIGH SYNDROME; LS
SURFEIT 1; SURF1

Affected:

Yes

Sex:

Male

Age:

6 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 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Dutch
Country of Origin USA
Family Member 5
Family History N
Relation to Proband brother
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks See "Phenotypic Data" tab. Clinically affected; has two affected siblings in family 3515: GM28019 (sister) and GM28020 (brother). Carrier parents are GM28022 (mother) and GM28023 (father).

Characterizations

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PDL at Freeze 9.09
Passage Frozen 3
 
Gene SURF1
Chromosomal Location 9q34.2
Allelic Variant 1 p.L90P; LEIGH SYNDROME
Identified Mutation c.269T>C (p.L90P)
 
Gene SURF1
Chromosomal Location 9q34.2
Allelic Variant 2 185620.0003; LEIGH SYNDROME
Identified Mutation c.312_321del10insAT (p.Leu105*)

Phenotypic Data

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Demographic Data
Relation to Proband brother
Age at Sampling 6 YR
Sex Male
Age of Onset(If not a control) 3 YR
Age at Diagnosis(If not a control) 4 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:  POSITIVE FOR FAMILIAL SURF1 MUTATION; WHOLE EXOME SEQUENCING REVEALED COMPOUND HETEROZYGOUS AUTOSOMAL RECESSIVE MUTATIONS IN EXON 4 OF THE SURF1 GENE (NM_003172.2); A PATERNALLY INHERITED HETEROZYGOUS MUTATION, C.269T>C (P.L90P), AND A MATERNALLY INHERITED HETEROZYGOUS MUTATION, C.312_321DEL10INSAT (P.L105X); READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19
Zygosity:  Compound Heterozygous
Other variants:  NEGATIVE FOR FBN1 GENE MUTATION FOUND IN SIBLINGS
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  3 1/2 YEARS
Age at Diagnosis:  4 YEARS, DIAGNOSED BY NEUROLOGIST
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:  No Data
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:  IMPAIRED HEARING WHICH HAS BEEN IMPROVED WITH EAR TUBES
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:  No Data
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:  COULD EAT WITH A SPOON OR FORK AT 14-16 MO; BABBLED AT 4-6 MO; PUT TWO WORDS TOGETHER AT 18-20 MO; SMILED IN RESPONSE TO SMILE AT 1-2 MO; PLAYED GAMES LIKE PEEK-A-BOO OR PAT-A-CAKE AT 6-8 MO; POINTED TO INDICATE NEEDS AT 9-11 MO; HAS LOST DEVELOPMENTAL SKILLS OR REGRESSED; GROSS MOTOR DELAYS, LACK OF COORDINATION, IMPAIRED BALANCE, GENERALIZED WEAKNESS
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:  SPEECH DELAY
Additional Information
Uncategorized Symptoms:  No Data
Testing Performed
Neurological Testing:  EEGS REPORTED NORMAL
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:  ADDITIONAL THERAPY: IEP; HAD A MITO NPV DIET AND FEEDING, BUT CURRENTLY HAS A NORMAL REGULAR DIET; EAR TUBES X3 PLACED
Medications
 CLONAZEPAM (FOR SEIZURES)
Family History
 FAMILY HISTORY IS SIGNIFICANT FOR DILATED AORTIC ROOT, LENS DISLOCATION, CLINICAL DIAGNOSIS OF MARFAN SYNDROME; NO CONSANGUINITY; MOTHER HAS ARTHRITIS, ANXIETY, DEPRESSION, OBESITY; FATHER HAS HIGH BLOOD PRESSURE AND MARFAN SYNDROME; A BROTHER HAS LEIGH SYNDROME, GLOBAL DEVELOPMENTAL DELAYS, INTELLECTUAL DISABILITY, AWKWARD GAIT; A SECOND BROTHER HAS SUSPECTED MARFAN SYNDROME; SISTER HAS LEIGH SYNDROME, GROSS/FINE MOTOR DELAYS, MARFAN SYNDROME; ANOTHER SISTER HAS SUSPECTED MARFAN SYNDROME; YOUNGEST BROTHER AND SISTER ARE HEALTHY; 4 MATERNAL UNCLES, 3 MATERNAL AUNTS, MATERNAL GRANDFATHER AND MATERNAL GRANDMOTHER ARE HEALTHY; 2 PATERNAL AUNTS AND 2 PATERNAL UNCLES HAVE MARFAN SYNDROME; PATERNAL UNCLE AND WIFE STRUGGLED WITH INFERTILITY AND THEIR ONLY CHILD HAS AN ABSENT CEREBELLUM; PATERNAL GRANDFATHER HAS MARFAN SYNDROME AND DIABETES MELLITUS; PATERNAL GRANDMOTHER IS IN GOOD HEALTH; PATERNAL GREAT UNCLE HAS ACUTE MYOCARDIAL INFARCTION AND MARFAN SYNDROME
Remarks See "Phenotypic Data" tab. Clinically affected; has two affected siblings in family 3515: GM28019 (sister) and GM28020 (brother). Carrier parents are GM28022 (mother) and GM28023 (father).

External Links

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Gene Cards MTATP6
SURF1
Gene Ontology GO:0004129 cytochrome-c oxidase activity
GO:0005739 mitochondrion
GO:0005746 mitochondrial electron transport chain
GO:0006118 electron transport
GO:0008535 cytochrome c oxidase biogenesis
GO:0009060 aerobic respiration
GO:0016021 integral to membrane
GO:0019866 inner membrane
NCBI Gene Gene ID:6834
NCBI GTR 185620 SURFEIT 1; SURF1
256000 LEIGH SYNDROME; LS
OMIM 185620 SURFEIT 1; SURF1
256000 LEIGH SYNDROME; LS
Omim Description LEIGH SYNDROME
  NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNE
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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