GM27241

GM27241 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
FOXG1
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

French; Ukraine; Scottish, American

Country of Origin

SWITZERLAND

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 of diagnosis at 1 years old; symptom onset at 3 months of age; microcephaly; axial hyptonia; epilepsy; developmental delay; cannot sit or stand independently; chewing problems with strong pharyngeal reflex; laughs or screams spontaneously; constipation; pronounced sleeping problems, though falls asleep quickly; EEG showed slow activity in some parts of the brain; MRI showed simplified gyral patterns but complete corpus callosum; exome sequencing of exon 1 and confirmation by Sanger sequencing revealed a likely pathogenic de novo heterozygous missense variant in FOXG1, c.688C>T (p.Arg230Cys) hg19 chr14:g.29237173C>T, and a de novo heterozygous nonsense variant in IQGAP2, C.2857C>T (p.Gln953*); array cGH revealed a duplication of 147 kb on chromosome 22, 22q12.3 (chr22:32,538,357 bp to 32,685,852 bp, GRCh37), arr(1-22)x2,(XY)x1; medications include omeprazole, laxipeg, valproate acid, and iron supplements; Management: physical therapy, occupational therapy, and speech language therapy; mother and father with no pathological sequence variant in exon 1 of FOXG1 are GM27243 and GMN27242, respectively; fibro is GM27461.