GM26267

GM26267 LCL from B-Lymphocyte

Description:

NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
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

Austr/Pol/German/Engl/Scot/Norw/Irish/French/Aryes

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; born at 38 4/7 weeks; delivered via emergency C-section after loss of fetal heart tones when epidural was placed; maternal labs and screens were normal; maternal history significant for hypertension (on labetalol) and anxiety/depression (on Prozac) and chronic glucosuria; respiratory support needed as a newborn; weak cry, apneic with hypotonia/neonatal encephalophathy, and poor feeding after birth; APGARS at 1, 5, 10, 15, and 20 minutes respectively were 4, 2, 5, 5, and 5; decreased range of motion on hand and metacarpophalangeal joints (MCP); mild facial dysmorphisms; creatine kinase (CK) was initially elevated, but became normal; weak with normal cognitive function; thrombocytosis, gastroesophageal reflux disease (GERD), trach/vent and G tube dependent; significant hospitalizations/procedures: partial uncovering of right femoral head in adduction (pelvis and hips) as an infant, echocardiogram (normal chamber sizes, valvular and ventricular systolic function), flexible bronchoscopy via tracheostomy, inpatient hospitalization for hypoxemia (PICU), laparoscopic gastrostomy tube insertion, EMG nerve conduction study - abnormal due to findings of generalized myopathy, brain MRI (but the location is a possible site of acute ischemia, otherwise normal), portable EEG could be consistent with presence of very mild diffuse cerebral dysfunction - no definite epileptiform activity or electrographic seizures were seen; histologic evaluation of right thigh muscle biopsy showed variation in fiber size with angulated small fibers scattered between normal and slightly hypertrophied fibers; genetic sequencing using genomic DNA revealed two heterozygous variants in the ACTA1 gene: in exon 3 - c.285_286delGC predicted to result in a frame-shift and premature protein termination (p.Glu95Aspfs*32) and in exon 5 - c.644A>T predicted to result in the amino acid substitution p.Lys215Met; current medications and treatments include: daily pulmonary toilet regimen, chest physical therapy with vest for 20 minutes, cough assist suction, Albuterol via nebulizer, Charithromycin, Epinephrine, Cetirizine, oxygen, Benefiber, Omeprazole, prune juice, hydrocortisone (for skin care), A & D Zinc Oxide cream, Triamcinolone Acetate; Zofran (ondansetron), Dextran, Cefazolin (for allergies); Children's Tylenol (Acetominophen), ibuprofen; medical equipment/devices include: ventilator, trachoestomy-Bivona pediatric Flextend TTS cuffed, oxygen concentrator, humidification heater, vest airway clearance system, pulse oximeter CO2 monitor, G-tube, feeding pump, diapers, medical bed, powered wheel, stander, thoracic-lumbar-sacral-orthotic (TLSO) brace, ankle-foot orthotic (AFO) brace for left leg for use in stander, and supra malleolar orthotic (SMO) leg brace for right leg for use in stander; assistive communication tools; therapies: occupational therapy, speech and language therapy, music therapy, developmental therapy; family history: no history of neurological diseases on maternal or paternal side, maternal 2nd cousin has neural tube defect (NTD), paternal uncle with history of "passing out" or fainting; mother is GM26190 (lymph)and dad is GM26191 (lymph).