GM25245

GM25245 LCL from B-Lymphocyte

Description:

NEPHROCEREBELLAR SYNDROME
GALLOWAY-MOWAT SYNDROME; GAMOS
WD REPEAT-CONTAINING PROTEIN 73; WDR73
WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES; WHAMM

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

Overview

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

Ethnicity

Amish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

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).

Characterizations

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

Phenotypic Data

Remarks

Publications

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