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NA25288 DNA from LCL

Description:

MICROCEPHALY WITH CHORIORETINOPATHY
TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
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 Mennonite
Country of Origin USA
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed at birth; congenital bilateral retinal detachments resulting in no functional vision; micrencephaly; chorioretinopathy; moderate intellectual disability; anxiety disorder; irritability; self-injurious behavior- hand-biting (emerged at 2 to 2.5 years of age); trichotillomania; exome sequencing revealed a the donor subject is homozygous for a read-through variant: c.5458T>G (p.Ter1820Gly) in the TUBGCP6 gene; this variant is predicted to incorporate 16 extra amino acids at the C-terminus of TUBGCP6 and/or may accelerate mRNA degradation via non-stop mediated decay [For more information see PMID: 22279524 Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases by Puffenberger et al.]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene TUBGCP6
Chromosomal Location 22q13.33
Allelic Variant 1 p.Ter1820Gly; MICROCEPHALY WITH CHORIORETINOPATHY
Identified Mutation c.5458T>G
 
Gene TUBGCP6
Chromosomal Location 22q13.33
Allelic Variant 2 p.Ter1820Gly; MICROCEPHALY WITH CHORIORETINOPATHY
Identified Mutation c.5458T>G

Phenotypic Data

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Remarks Clinically affected; diagnosed at birth; congenital bilateral retinal detachments resulting in no functional vision; micrencephaly; chorioretinopathy; moderate intellectual disability; anxiety disorder; irritability; self-injurious behavior- hand-biting (emerged at 2 to 2.5 years of age); trichotillomania; exome sequencing revealed a the donor subject is homozygous for a read-through variant: c.5458T>G (p.Ter1820Gly) in the TUBGCP6 gene; this variant is predicted to incorporate 16 extra amino acids at the C-terminus of TUBGCP6 and/or may accelerate mRNA degradation via non-stop mediated decay [For more information see PMID: 22279524 Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases by Puffenberger et al.]

Publications

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Puffenberger EG1, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA., Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One7 (1):e28936 2012
PubMed ID: 222794524

External Links

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Gene Cards TUBGCP6
NCBI GTR 251270 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1
610053 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6
OMIM 251270 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1
610053 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6
Omim Description CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME,AUTOSOMAL RECESSIVE FORM
  MICROCEPHALY WITH CHORIORETINOPATHY
  PSEUDOTOXOPLASMOSIS SYNDROME
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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