GM27891

GM27891 LCL from B-Lymphocyte

Description:

PRADER-WILLI SYNDROME; PWS
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

Affected:

Yes

Sex:

Female

Age:

10 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

Ashkenazi Jewish

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; See Phenotypic Data Tab.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SNRPN

Chromosomal Location

15q12

Allelic Variant 1

p.Arg25Ter; PRADER-WILLI SYNDROME

Identified Mutation

mosaic c.73C>T(p.Arg25Ter)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

10 YR

Sex

Female

Age at Diagnosis(If not a control)

10 YR

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:

CLINICAL EXOME SEQUENCE ANALYSIS IDENTIFIED A LIKELY PATHOGENIC AUTOSOMAL DOMINANT DE NOVO VARIANT IN THE SNRPN GENE (NM_003097.4): C.73C>T (P.ARG25TER) IN EXON 5; CHR:POSITION 15:25220574; READS WERE ALIGNED AND ASSEMBLED TO REFERENCE SEQUENCES BASED ON NCBI REFSEQ TRANSCRIPTS AND HUMAN GENOME BUILD GRCH37/UCSC HG19

Zygosity:

Other
Notes: MOSAIC, C.73C>T PRESENT IN 10.38% OF 106 SEQUENCING READS

Other variants:

NO PATHOGENIC MTDNA VARIANTS WERE IDENTIFIED; CNV ANALYSIS WAS PERFORMED - THERE IS NO CLINICALLY RELEVANT DELETION OR DUPLICATION OF 3 OR MORE EXONS IN THE DATA FOR THIS PROBAND

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

DIAGNOSED AT 10 YEARS OF AGE BY A GENETICIST

In Utero History Information

Birth History Information

Caesarian section

Additional Information:

C-SECTION, LOW TRANSVERSE; APGARS - ONE: 8, TEN: 9

Dysmorphic Features

Additional Information:

MICRO AND RETROGNATHIA

Neurological Symptoms

Hypotonia
Sleep abnormalities

Additional Information:

SKIN PICKING; LOW TONE

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Abnormal weight for age

Gastrointestinal Symptoms

Additional Information:

FOOD PERSEVERATIONS

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Autism spectrum disorder
Sleep disturbances
Attention deficit hyperactivity disorder

Additional Information

Testing Performed

Uncategorized Testing:

BASED ON CDC (GIRLS 2-20 YEARS): BMI 94%, WEIGHT 91%, HEIGHT/STATURE 59%

Treatments and Assistive Devices

Medications

SOMATROPIN (NUTROPIN)

Family History

BASED ON VARIANT SEGREGATION ANALYSIS BY WHOLE EXOME SEQUENCING (WES) RESULTS, THIS PROBAND'S PARENTS (NOT IN REPOSITORY) DO NOT HARBOR THE P.R25X VARIANT IN THE SNRPN GENE.

External Links

Gene Cards

SNRPN

NCBI Gene

Gene ID:5821

Gene ID:6638

NCBI GTR

176270 PRADER-WILLI SYNDROME; PWS

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

OMIM

176270 PRADER-WILLI SYNDROME; PWS

182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

Omim Description

PRADER-LABHART-WILLI SYNDROME

PRADER-WILLI SYNDROME CHROMOSOME REGION; PWCR

PRADER-WILLI SYNDROME; PWS

Culture Protocols

Split Ratio

1:4

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

PRADER-WILLI SYNDROME; PWS SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

Affected:

Yes

Sex:

Female

Age:

10 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

PRADER-WILLI SYNDROME; PWS
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN