GM28735

GM28735 LCL from B-Lymphocyte

Description:

HOMOCYSTINURIA
CYSTATHIONINE BETA-SYNTHASE; CBS

Affected:

Yes

Sex:

Female

Age:

36 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
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

English, Irish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

See "Phenotypic Data" tab;

Characterizations

Gene

CBS

Chromosomal Location

21q22.3

Allelic Variant 1

Gly > Ser; HOMOCYSTINURIA

Identified Mutation

c.919G>A (p.Gly307Ser)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

36 YR

Sex

Female

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

WHOLE GENOME SEQUENCING REVEALED A PATHOGENIC VARIANT (C.919 G>A) IN THE CBS GENE RESULTING IN A TYPE OF MISSENSE MUTATION (P.GLY307SER).

Zygosity:

Homozygous

Age of Symptom Onset and Age at Diagnosis

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Optical and Audiological Symptoms

Additional Information:

BILATERAL LENS DISLOCATION; LENS REPLACEMENT

Musculoskeletal Symptoms

Scoliosis

Additional Information:

OSTEOPENIA

Developmental Milestones

Gastrointestinal Symptoms

Cholecystectomy

Additional Information:

APPENDECTOMY; GALLSTONES; LOW CREATININE

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Additional Information:

BLOOD CLOT IN WRIST; CHEST XRAY REVEALED AIRSPACE DISEASE AND BRONCHIECTASIS IN RIGHT LOWER LOBE

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Additional Testing:

FOLLOWS LOW PROTEIN DIET WITH MEDICAL FORMULA

Medications

ACETYLCYSTEINE; ASCORBIC ACID; BETAINE; BUDESONIDE; CALCIUM-MAGNESIUM-ZINC TABLETS; VITAMIN D3; PLAVIX; VITAMIN B-12; FLUTICASONE PROPIONATE; FOLIC ACID; LACTOBACILLUS ACIDOPHILUS; LECITHIN; LEVOCETIRIZINE; SINGULAIR; HCU EXPRESS POWDER; OMEGA3 FISH OIL TABLETS; VITAMIN B-6

Family History

FAMILY HISTORY OF CANCER: MATERNAL UNCLE- LIVER, MATERNAL COUSIN- COLON, MATERNAL GRANDMOTHER- SKIN, AUNT- BREAST

Remarks

See "Phenotypic Data" tab;