GM27318

GM27318 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

6 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

German

Country of Origin

GERMANY

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. Clinically Affected; Unaffected Mother is GM27319 (lymph) and Unaffected Father is GM27320 (lymph).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FOXG1

Chromosomal Location

14q12

Allelic Variant 1

p.Arg244Cys; RETT SYNDROME, CONGENITAL VARIANT

Identified Mutation

c.730C>T (p.Arg244Cys)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

6 YR

Sex

Male

Age at Diagnosis(If not a control)

2 YR

Racial Category

White

Country

GERMANY

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

SANGER SEQUENCING REVEALED A MUTATION IN FOXG1, C.730C>T (P.ARG244CYS)

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

In Utero History Information

Birth History Information

Dysmorphic Features

Strabismus
Microcephaly

Additional Information:

FACIAL DYSMORPHIA

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Eating difficulties

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy

Medications

Family History

Publications

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K, FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants Genetics in medicine : official journal of the American College of Medical Genetics20:98-108 2016

PubMed ID: 28661489