GM28368

GM28368 Fibroblast from Skin, Skin

Description:

ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L

Affected:

Yes

Sex:

Male

Age:

37 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Eastern European, 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

PDL at Freeze

5.85

Passage Frozen

Gene

SAMD9L

Chromosomal Location

7q21.2

Allelic Variant 1

p.Arg986His; ATAXIA-PANCYTOPENIA SYNDROME; ATXPC

Identified Mutation

c.2957G>A (p.Arg986His); STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

37 YR

Sex

Male

Age of Onset(If not a control)

16 YR

Age at Diagnosis(If not a control)

16 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:

TARGETED SEQUENCING OF A HEREDITARY MYELOID MALIGNANCY AND INHERITED BONE MARROW FAILURE GENE PANEL REVEALED A LIKELY PATHOGENIC HETEROZYGOUS MUTATION (C.2957G>A; P.ARG986HIS) IN EXON 6 OF THE SAMD9L GENE (NM_001303497.1)

Zygosity:

Heterozygous
Notes: DE NOVO MUTATION

Other variants:

TARGETED SEQUENCING OF A HEREDITARY MYELOID MALIGNANCY AND INHERITED BONE MARROW FAILURE GENE PANEL REVEALED HETEROZYGOUS VARIANTS OF UNKNOWN SIGNIFICANCE IN EXON 30 OF THE FANCA GENE (C.2968G>A; P.ASP990ASN) AND EXON 9 OF THE FANCE GENE (C.1424A>G; P.LYS475ARG).

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

16 YEARS (AML - HEMATOLOGIC SYMPTOMS); 28 YEARS (NEUROLOGIC SYMPTOMS)

Age at Diagnosis:

16 (AML)

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Neuropathy:

Peripheral

Ataxia
Seizures
Unstable gait

Additional Information:

NYSTAGMUS; CLONUS; HYPER REFLEXES IN LOWER LIMBS; ABNORMAL GAIT AND LOSS OF BALANCE; MRI REVEALED HYPERINTENSE FLAIRS, ATROPHY OF THE PROPRIOCEPTORS, SHRINKAGE OF BRAIN; EMGS SHOW DEMYELINATION; SPINAL TAP SHOWS 7 LYMPHOCYTES; GRAND MAL SEIZURE; BORDERLINE DIAGNOSES OF CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY (CIDP), AUTOIMMUNE ENCEPHALITIS, AND SMALL FIBER NEUROPATHY

Optical and Audiological Symptoms

Nystagmus

Musculoskeletal Symptoms

Additional Information:

MUSCLE WEAKNESS

Developmental Milestones

Gastrointestinal Symptoms

Additional Information:

APPEARANCE OF SIGNS OF PRE-DIABETES; LIVER STEATOSIS

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Additional Information:

GROUND GLASS OPACITIES FOUND IN LUNGS

Cognitive and Behavioral Symptoms

Additional Information:

BRAIN FOG; FATIGUE BORDERING NARCOLEPSY; FOOT DROP; COGNITIVE LAPSES; CONFUSION; DEPERSONALIZATIONS

Additional Information

Uncategorized Symptoms:

DIAGNOSES WITH ACUTE MYELOID LEUKEMIA (AML)

Testing Performed

Neurological Testing:

MRI

Musculoskeletal and Developmental Testing:

EMG; SPINAL TAP

Uncategorized Testing:

ERYTHROCYTE SEDIMENTATION RATE (ESR) HAS BEEN CHRONICALLY HIGH

Treatments and Assistive Devices

Surgeries

BONE MARROW TRANSPLANT - LEAD TO DEVELOPMENT OF CHRONIC GRAFT VS. HOST DISEASE (CGVHD) OF THE SKIN

Additional Testing:

BRACES FOR VARIOUS JOINTS

Medications

PENTOSTATIN; RAPAMYCIN; BARICITBIN; ADDERALL; SELEGLINE; EXELON; OLMESARTAN

Family History

FAMILY HISTORY OF BLOOD CANCERS ON FATHER'S SIDE; MOTHER HAS A HETEROZYGOUS VOUS IN FANCM GENE (C.2267G>A; P.ARG756HIS)

Remarks

Clinically affected; see "Phenotypic Data" tab.

External Links

Gene Cards

SAMD9L

NCBI GTR

159550 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC

611170 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L

OMIM

159550 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC

611170 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L

Omim Description

ATAXIA-PANCYTOPENIA SYNDROME

MYELOCEREBELLAR DISORDER

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

ATAXIA-PANCYTOPENIA SYNDROME; ATXPC STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L

Affected:

Yes

Sex:

Male

Age:

37 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L