GM24202

GM24202 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

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, Scottish

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at 2-5 years age range; maximum motor function ever achieved and current maximum motor function: climbing stairs with handrail; held head up at 10 months, turned in bed at 18 months, sat at 15 months, stood at 18 months; walked indoors at 4 years with assistance, walked outdoor at 4.5 years with assistance, climbed stairs at 4.5 years with handrail; cannot run; brain involvement; abnormal CT scan revealed polymicrogyria and cerebellar cysts; CMD confirmed by blood test/creatine kinase abnormal, brain MRI, muscle imaging, and genetic testing; POMGT1 sequencing revealed: a heterozygous c.1895+1G>T mutation. This change is believed to be pathogenic, causing a splice donor site error affecting intron 21 processing; a homozygous c.1867A>G variant (p.M623V) was also identified but is not believed to be pathogenic; two additional polymorphisms were identified: ex7 heterozygous c.636C>T (p.F212F) and ex8 heterozygous c.681A>G (p.K227F).