NA26113

NA26113 DNA from Fibroblast

Description:

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Quantity

10 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

Asiatic Indian

Ethnicity

Indian

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY[18]

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at birth; diagnosed by neurologist and geneticist at 3 months of age; deceased at 8 months of age; dysmorphic features; large mouth; seizures; pontocerebellar hypoplasia; dysgenesis of the corpus callosum; relative microcephaly; severe hypotonia; pelviectasis kidney; developmental delay; abnormal movements; eyes: not fixing or following, complains of vision issues or eye injury; complains of tremors; possible normal microarray (1-22)x2,(XY),x1; whole exome sequencing revealed donor was homozygous for a c.1434_c.1434+1delGGinsAA pathogenic variant in the PIGN gene; donor was also compound heterozygous for the following variants of unknown significance in the RYR3 gene: c.4562G>C (p.W1521S) and c.12389A>C (p.E4130A); management includes: physical therapy and occupational therapy; whole exome sequencing also revealed that parents are heterozygous for c.1434_c.1434+1delGGinsAA and are asymptomatic carriers (not in repository); consanguinity denied.

Characterizations

PDL at Freeze

2.97

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

PIGN

Chromosomal Location

18q21.33

Allelic Variant 1

; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Identified Mutation

c.1434_c.1434+1delGGinsAA

Gene

PIGN

Chromosomal Location

18q21.33

Allelic Variant 2

; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Identified Mutation

c.1434_c.1434+1delGGinsAA

Phenotypic Data

Remarks

External Links

Gene Cards

PIGN

NCBI Gene

Gene ID:23556

NCBI GTR

606097 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

OMIM

606097 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD

Description:

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN