GM28028

GM28028 LCL from B-Lymphocyte

Description:

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8

Affected:

Yes

Sex:

Male

Age:

5 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

Not Hispanic/Latino

Ethnicity

Caucasian

Country of Origin

USA

Family Member

Family History

Relation to Proband

brother

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

See "Phenotypic Data" Tab; Clinically affected brother of affected brothers GM28047 (lymph) and GM28061 (lymph); Affected mother is GM28048.

Characterizations

Gene

SLC6A8

Chromosomal Location

Xq28

Allelic Variant 1

Phe107del; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Identified Mutation

c.321_323delCTT (p.Phe107del)

Phenotypic Data

Demographic Data

Relation to Proband

brother

Age at Sampling

5 YR

Sex

Male

Hispanic or Latino/Not Hispanic or Latino

Not 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 THAT SUBJECT HAS A HEMIZYGOUS X-LINKED DELETION IN SLC6A8: C.321_323DELCTT (P.PHE107DEL)

Zygosity:

Hemizygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

BIRTH

In Utero History Information

Birth History Information

Failure to thrive

Dysmorphic Features

Neurological Symptoms

Seizures

Additional Information:

ABSENCE SEIZURES

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Constipation

Genitourinary Symptoms

Additional Information:

MARKED ELEVATED CREATINE LEVELS IN URINE AT 4 WEEKS OF AGE (3420.0 MMOL/MOL CN)

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information:

NON-VERBAL; EXAGGERATED STARTLE WITHOUT STIMULUS;

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices

Additional Testing:

PSYCHOLOGICAL THERAPY

Medications

Family History

FIVE BROTHERS: A BROTHER WITH HIRSCHSPRUNG DISEASE; TWO BROTHERS WITH X-LINKED CREATINE TRANSPORTER DEFICIENCY; A BROTHER WITH AN UMBILICAL HERNIA, EAR TAGS, FLUID ON KIDNEYS, AND SPEECH DELAYS; A BROTHER WITH SPEECH DELAY; MOTHER CARRIES SLC6A8 GENE; MATERNAL UNCLE WITH INTELLECTUAL DISABILITY, AUTISTIC FEATURES, AND SEIZURES WHEN YOUNGER; MATERNAL GRANDMOTHER HAD TWO SISTERS WITH MENTAL ILLNESS; PATERNAL COUSIN HAS LEARNING DISABILITIES AND BEHAVIORAL PROBLEMS; PATERNAL GRANDMOTHER HAS A BROTHER WITH HIRSCHSPRUNG; NO HISTORY OF CONSANGUINITY

Remarks

See "Phenotypic Data" Tab; Clinically affected brother of affected brothers GM28047 (lymph) and GM28061 (lymph); Affected mother is GM28048.