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GM22113 LCL from B-Lymphocyte

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Female

Age:

7 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Family Member 2
Relation to Proband sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; newborn screened and diagnosed at 1 day of age; failure to thrive; affected sister is GM22112; tachypnea; slow gut motility; g-tube; infrequent vomiting; grand mal seizures; acute anemia; immune deficiency; asthma; short stature; broken left arm/elbow; walked at 2 years of age; talked at age 18 months; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene PCCB
Chromosomal Location 3q21-q22
Allelic Variant 1 232050.0003; PROPIONIC ACIDEMIA
Identified Mutation 12-BP INS, 14-BP DEL, NT1218; Rodriguez-Pombo et al. (1998) found that the most frequent mutation causing PCCB deficiency (606054) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp, respectively, following nucleotide 1218. This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence.
 
Gene PCCB
Chromosomal Location 3q21-q22
Allelic Variant 2 232050.0003; PROPIONIC ACIDEMIA
Identified Mutation 12-BP INS, 14-BP DEL, NT1218; Rodriguez-Pombo et al. (1998) found that the most frequent mutation causing PCCB deficiency (606054) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp, respectively, following nucleotide 1218. This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence.

Phenotypic Data

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Demographic Data
Relation to Proband sister
Age at Sampling 7 YR
Sex Female
Age at Diagnosis(If not a control) 1 DA
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
 
Data Elements
Clinical Element Type: Propionic Acidemia
  (Baseline)
Neonatal Data
Was this child newborn screened? yes   no  unknown 
If yes, was the result prior to hospitalization yes  no   unknown 
Was child breast-fed? yes  no   unknown 
Failure to thrive? yes   no  unknown 
Molecular/Enzyme Laboratory Test Results
Which Gene: PCCA? yes  no   unknown 
Which Gene: PCCB? yes   no  unknown 
Mutations Allele 1  C.1218DEL14INS12
Mutations Allele 2  C.1218DEL14INS12
Family History
Are there other family members with PA? yes   no  unknown 
Number of siblings with PA  1
Other affected relatives? yes  no   unknown 
Has the individual passed away? yes  no   unknown 
Clinical Evaluation
Current weight in kgs  29
Current height in cms  113
Respiratory
Apnea yes  no   unknown 
Tachypnea yes   no  unknown 
Cardiovascular
Cardiomyopathy yes  no   unknown 
Long QT? yes  no  unknown  
If yes, type  No Data
Abdominal/Gastrointestinal
Pancreatitis chronic  acute  never noted  
Kidney problems yes  no   unknown 
Liver transplant yes  no   unknown 
Port-a-cath currently in place  not currently in place   never had one 
Gut motility normal  slow   requires medication  unknown 
Reflux yes  no   unknown 
Eating by mouth  0%
Tube fed yes   no  unknown 
If yes, what kind  G-tube
Vomiting  infrequently
Are anti-emetics used for vomiting yes   no  unknown 
List medications  ZOPHRAN
Neurologic
Basal ganglia damage yes  no  unknown  
If yes, determined by  No Data
Seizures yes   no  unknown 
If yes, type and frequency  GRAND MAL, NONE IN OVER 2 YRS
Autism spectrum disorder yes  no   unknown 
ADD/ADHD yes  no   unknown 
Optic nerve damage yes  no  unknown  
Neutropenia chronic  acute  unknown  
Anemia yes   no  unknown 
If yes, type of anemia  No Data
Immune deficiency yes   no  unknown 
Treated with IVIG yes   no  unknown 
Low platelets chronic  acute  not applicable   unknown 
Asthma yes   no  unknown 
Secondary hip dysplasia yes  no   unknown 
Broken bones yes   no  unknown 
If yes, type of fracture and location  LEFT ARM/ELBOW BROKEN IN 3 PLACES
Short stature yes   no  unknown 
Growth hormone treatment yes  no   unknown 
Osteoporosis yes  no  unknown  
Developmental Evaluation
Walking  75% of the time
Age when first walked  2 YEARS
Language  significantly below age level
Age when first talked  18 MONTHS
Congitive ability  moderately impaired
IQ known  untested  unsure  
Metabolic
Is the individual biotin responsive yes  no   unknown 
Episodes of ketoacidosis yes   no  unknown 
If yes, give frequency  once a month or more
Chronic hyperammonemia yes   no  unknown 
Currently elevated  2 times normal
Is the individual currently on metabolic formula yes   no  unknown 
If yes, which ones Propimex
Pro-phree
Duocal
Is the individual taking levocarnitine yes   no  unknown 
Other supllements B-6
Remarks Clinically affected; newborn screened and diagnosed at 1 day of age; failure to thrive; affected sister is GM22112; tachypnea; slow gut motility; g-tube; infrequent vomiting; grand mal seizures; acute anemia; immune deficiency; asthma; short stature; broken left arm/elbow; walked at 2 years of age; talked at age 18 months; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)

External Links

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GEO GEO Accession No: GSM1050479
GEO Accession No: GSM1050480
NCBI GTR 606054 PROPIONIC ACIDEMIA
OMIM 606054 PROPIONIC ACIDEMIA
Omim Description PROPIONIC ACIDEMIA

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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