GM28994

GM28994 Fibroblast

Description:

CHOROIDEREMIA; CHM
CHM GENE; CHM

Affected:

Yes

Sex:

Male

Age:

43 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Hispanic/Latino

Ethnicity

Spanish

Country of Origin

USA

Family History

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected. Reported in literature (PMID: 29045269). See "Phenotypic Data" tab. Hemizygous mutation in the CHM gene c.1359C>T (p.Ser435Pro).

Characterizations

PDL at Freeze

5.16

Passage Frozen

Gene

CHM

Chromosomal Location

Xq21.2

Allelic Variant 1

; CHOROIDEREMIA

Identified Mutation

c.1358C>T (p.Ser453Pro)

Phenotypic Data

Demographic Data

Age at Sampling

43 YR

Sex

Male

Age of Onset(If not a control)

16 YR

Age at Diagnosis(If not a control)

34 YR

Hispanic or Latino/Not Hispanic or Latino

Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

CHM, C.1359C>T (P.SER453=), SYNONYMOUS, EXON 11

Zygosity:

Hemizygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

16 YEARS

Age at Diagnosis:

34 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Optical and Audiological Symptoms

Defective vision

Additional Information:

NYCTALOPIA PERIPHERAL VISION LOSS DECREASED CENTRAL VISION BOTH EYES PALE PERIPHERAL FUNDUS SUBRETINAL PIGMENT EXTENSIVE RPE ATROPHY WITH MACULAR SPARING

Musculoskeletal Symptoms

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Optical and Audiological Testing:

VISUAL ACUITY: 20/20CC OU

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Additional Testing:

COMMUNICATION/LEARNING DEVICE

Medications

DORZOLAMIDE HCL 2% EYE DROPS NAC

Family History

AFFECTED MATERNAL GRANDFATHER CARRIER MOTHER

Remarks

Clinically affected. Reported in literature (PMID: 29045269). See "Phenotypic Data" tab. Hemizygous mutation in the CHM gene c.1359C>T (p.Ser435Pro).

External Links

Gene Cards

CHM

Gene Ontology

GO:0004663 RAB-protein geranylgeranyltransferase activity

GO:0005084 Rab escort protein activity

GO:0005096 GTPase activator activity

GO:0005968 Rab-protein geranylgeranyltransferase complex

GO:0006886 intracellular protein transport

GO:0007601 visual perception

GO:0018348 protein amino acid geranylgeranylation

GO:0043087 regulation of GTPase activity

NCBI Gene

Gene ID:1121

NCBI GTR

300390 CHM GENE; CHM

303100 CHOROIDEREMIA; CHM

OMIM

300390 CHM GENE; CHM

303100 CHOROIDEREMIA; CHM

Omim Description

CHOROIDEREMIA; CHM

GGTA, INCLUDED

RAB ESCORT PROTEIN 1, INCLUDED; REP1, INCLUDED

RAB GERANYLGERANYLTRANSFERASE, COMPONENT A, INCLUDED

RAB GG TRANSFERASE, INCLUDED

TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCDCHOROIDAL SCLEROSIS, INCLUDED

Culture Protocols

Passage Frozen

Split Ratio

1:2

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD

Description:

CHOROIDEREMIA; CHM CHM GENE; CHM

Affected:

Yes

Sex:

Male

Age:

43 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

CHOROIDEREMIA; CHM
CHM GENE; CHM