GM27260

GM27260 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample
FOXG1

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

Italian, Eastern European

Country of Origin

BRAZIL

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; age at diagnosis 15 months; age of symptom onset 3 months; microcephaly; developmental delay; autistic symptoms; epilepsy; a submitted report summarized details of a translocation: t(2;14); the chr 14 breakpoint is located within the FOXG1 regulatory domain; this 14q12 breakpoint truncates the 3'UTR of the non-coding gene c14orf23 20-24 kb 3' to FOXG1 in a region associated with long-range position effect (LRPE) of FOXG1 with symptoms similar to those of point mutations within FOXG1; the chr 2 breakpoint is within 2q36.1, truncating the gene WDFY1 (expressed at low levels in tissue, not highly expressed in brain); EKG results were normal; EEG results were abnormal and showed signs of focal epilepsy; speech language therapy; physical therapy; occupational therapy; medications include keppra, clobazam, trihexyphenidyl, and melatonin; fibro is GM27261; mother is GM27262 (LCL) and father is GM27264 (LCL)/GM27265 (fibro).