GM28288

GM28288 Fibroblast from Skin, Skin

Description:

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

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

More than one race

Ethnicity

Asian/White; ETHN: Chinese, Irish, German, English

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

Characterizations

PDL at Freeze

7.22

Passage Frozen

Gene

SLC6A8

Chromosomal Location

Xq28

Allelic Variant 1

Gln114His; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Identified Mutation

c.342 G>C (p.Gln114His)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

3 YR

Sex

Male

Age of Onset(If not a control)

9 MO

Age at Diagnosis(If not a control)

2 YR

Racial Category

More than one race

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A HEMIZYGOUS, LIKELY PATHOGENIC VARIANT (C.342G>C) IN EXON 2 OF THE SLC6A8 GENE (RNA REFSEQ NM_005629.3) RESULTING IN A MISSENSE MUTATION (P.GLN114HIS). UNAFFECTED MOTHER IS POSSIBLY MOSAIC FOR THE P.Q114H VARIANT IN THE SLC6AB GENE.

Zygosity:

Hemizygous
Notes: HEMIZYGOUS FOR X-LINKED DISORDER

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

9 MONTHS

Age at Diagnosis:

2 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Hypotonia