Description:
NEPHROCEREBELLAR SYNDROME
GALLOWAY-MOWAT SYNDROME; GAMOS
WD REPEAT-CONTAINING PROTEIN 73; WDR73
WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES; WHAMM
|
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
|
Not Hispanic/Latino
|
|
Ethnicity
|
Amish
|
|
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
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
WHAMM |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.1264_1270delATAAAAG; WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES |
| |
| Gene |
WDR73 |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.888delT |
| |
| Gene |
WDR73 |
| Chromosomal Location |
15q25.2 |
| Allelic Variant 2 |
; |
| Identified Mutation |
c.888delT |
| Remarks |
Clinically affected; onset of symptoms as an infant; diagnosed at less than 1 year of age; microcephaly; dystonia; seizures; corticovisual impairment; global developmental delay; WDR73 gene tested using high resolution melting analysis; homozygous for c.888delT mutation in the WDR73 gene and heterozygous for a c.1264_1270delATAAAAG mutation in the WHAMM gene [please refer to publication by Jinks et al PMID: 26070982]; surgeries: gastrostomy (jejunostomy) tube placement; assistive devices: a wheelchair; medications: diazepam and keppra; mother (GM25249) and father (GM25247/GM25248) are both unaffected heterozygous carriers for the c.888delT mutation in the WDR73 gene; subject has 3 affected siblings and 1 unaffected sibling (not in repository). |
| Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA, Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 Brain : a journal of neurology138:2173-90 2014 |
| PubMed ID: 26070982 |
|