GM28392

GM28392 LCL from B-Lymphocyte

Description:

ATR-X SYNDROME
ATRX CHROMATIN REMODELER; ATRX

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Hispanic/Latino

Ethnicity

Spanish, Mexican, and European

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

See Phenotypic Data tab; unaffected father is GM28395 (LCL)

Characterizations

Gene

ATRX

Chromosomal Location

Xq21.1

Allelic Variant 1

Arg2085Cys; ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Identified Mutation

c.6253 C>T (p.Arg2085Cys)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

4 YR

Sex

Male

Age at Diagnosis(If not a control)

2 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:

WHOLE EXOME SEQUENCING REVEALED A PATHOGENIC VARIANT (C.6253C>T) IN EXON 28 OF THE ATRX GENE (NM_000489.3) RESULTING IN A MISSENSE MUTATION (P.ARG2085CYS)

Zygosity:

Hemizygous
Notes: HEMIZYGOUS FOR X-LINKED DISORDER

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

2 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

EPICANTHAL EYE FOLDS; WIDE NASAL BRIDGE; INVERTED NIPPLES

Neurological Symptoms

Hypotonia

Additional Information:

CEREBRAL VISUAL IMPAIRMENT; POSSIBLE PERIVENTRICULAR LEUKOMALACIA

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Additional Information:

LOW TONE IN MOUTH; SHORT STATURE

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices

Medications

MIRALAX

Family History

MOTHER IS AN UNAFFECTED CARRIER

Remarks

See Phenotypic Data tab; unaffected father is GM28395 (LCL)

External Links

Gene Cards

ATRX

Gene Ontology

GO:0003678 DNA helicase activity

GO:0003700 transcription factor activity

GO:0005524 ATP binding

GO:0005634 nucleus

GO:0005720 nuclear heterochromatin

GO:0006281 DNA repair

GO:0006306 DNA methylation

GO:0006310 DNA recombination

GO:0006355 regulation of transcription, DNA-dependent

GO:0007001 chromosome organization and biogenesis (sensu Eukarya)

GO:0007605 perception of sound

NCBI Gene

Gene ID:546

NCBI GTR

300032 ATR-X GENE; ATRX

301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

OMIM

300032 ATR-X GENE; ATRX

301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Omim Description

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE

ATR, NONDELETION TYPE; ATR2

ATR-X SYNDROME; ATRX

X-LINKED ALPHA-THALASSEMIA/MENTAL RETARDATION

Culture Protocols

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

ATR-X SYNDROME ATRX CHROMATIN REMODELER; ATRX

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

ATR-X SYNDROME
ATRX CHROMATIN REMODELER; ATRX