Description:
MICROCEPHALY WITH CHORIORETINOPATHY
TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6
|
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
|
|
| 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 |
| 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.] |
| 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 |
|
|