GM27373

GM27373 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

23 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

British

Country of Origin

ENGLAND

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; pregnancy normal, but reduced fetal movements compared to older sibling; birth at full term 8lbs 8oz; feeding problems at birth, with slow weight gain until able to pick up food and self feed at 3 yrs; delay in milestones: smiled at 10m; stood at 18m but left-side neglect; walked at 34m; dystonia from 2yrs (improved with dopamine from 16 years); speech: occasional words from 3 yrs, no fluency until improvement when dopamine given for the dystonia - this led to phrases and ‘almost sentences’; no surgery; seizures: some febrile seizures from 18m: 10 in total bad spell at 4yrs, last fit at 6 yrs; dystonia; axial and limb myoclonia; orofacial dyskinesia; distal hand tremor; early infantile hypotonia, MRI scans have shown delayed myelination with deficiency of the anterior corpus callosum, cerebellar hypoplasia and frontal underdevelopment; hyperkinesia; stereotypies and tics; de novo mutation detected in FOXG1 gene: c.695A>G (p.Asn232Ser); sleep problems managed by Clonidine; speech and movement improved with Levodopa; medications include Sinemet and Rasagiline; uses communication aid; severe verbal apraxia; moderate to severe learning disability; EEG showed no abnormalities; family history: mother had an aneurysmal subarachnoid hemorrhage, paternal grandfather had a subarachnoid hemorrhage; Same subject as GM27616 (fibro) and GM27629 (iPSC). Unaffected brother is GM27374, unaffected father is GM27376.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FOXG1

Chromosomal Location

14q12

Allelic Variant 1

Asn232Ser; RETT SYNDROME, CONGENITAL VARIANT

Identified Mutation

c.695A>G (p.N232S)

Phenotypic Data

Remarks

Publications

Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA, Delineation of the movement disorders associated with FOXG1 mutations Neurology86:1794-800 2015

PubMed ID: 27029630