GM29361

GM29361 LCL from B-Lymphocyte

Description:

MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

Affected:

Yes

Sex:

Female

Age:

14 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

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

See "Phenotypic Data Tab"

Characterizations

Gene

MANBA

Chromosomal Location

4q24

Allelic Variant 1

; MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

Identified Mutation

c.1540-1541del (p.Val514Cysfs*10)

Gene

MANBA

Chromosomal Location

4q24

Allelic Variant 1

; MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

Identified Mutation

C.2352_2356del (p.Thr785Leufs*27)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

14 YR

Sex

Female

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:

MANBA: C.1540-1541DEL (P.VAL514CYSFS*10) MANBA: C.2352_2356DEL (P.THR785LEUFS*27)

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

In Utero History Information

Birth History Information

Dysmorphic Features

Coarse facies

Additional Information:

DENTITION MISALIGNED BUT NORMATIVE; MILD FACIAL DYSMORPHISM; TORTUOUS CONJUNCTIVAL VESSELS; VACUOLATION; WIDE NASAL BRIDGE; RETROGNATHIA

Neurological Symptoms

Hypotonia
Seizures

Additional Information:

SEIZURES CONTROLLED BY OXCARBAZEPINE - NO EPISODES FOR 7 YRS; MENTAL RETARDATION; GILLES DE LA TOURETTE SYNDROME; PROGRESSIVE DEMYELINATING PERIPHERAL NEUROPATHY BUT RARE; POSSIBLE SLEEP APNEA

Optical and Audiological Symptoms

Defective hearing

Additional Information:

INTERMITTENT ALTERNATING EXOTROPIA; BILATERAL MODERATE TO SEVERE HEARING LOSS

Musculoskeletal Symptoms

Additional Information:

THENAR ATROPHY BUT RARE; HYPOTONIA

Developmental Milestones

Delayed speech and language development

Additional Information:

SAYS SINGLE WORDS AND DOES NOT CONJUGATE; IEP IN PLACE AT SCHOOL

Gastrointestinal Symptoms

Constipation

Additional Information:

CONSTIPATION CONTROLLED WITH MIRALAX

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Additional Information:

LACK OF SWEAT AND COLD DIGITALS; ABNORMAL BLOOD PRESSURE

Cognitive and Behavioral Symptoms

Behavioral problems
Learning disability

Intellectual Disability:

Moderate

Additional Information:

BEHAVIOR IMPROVED WITH TRILEPTAL; AGGRESSION DUE TO INABILITY TO COMMUNICATE; ADHD CONTROLLED WITH METHYLPHENIDATE; ASD DIAGNOSED 3/28/22

Additional Information

Uncategorized Symptoms:

BRUISES AND SCARS EASILY; ANGIOKERATOMA ON ABDOMEN; ALLERGIC REACTIONS(ITCHING, RASH, AND PRURITIS) TO AUGMENTIN, NEOMYCIN, LATEX, AND NATURAL RUBBER

Testing Performed

Neurological Testing:

MRI: LEUKODYSTROPHY INCLUDING MARKED CEREBRAL WHITE MATTER VOLUME LOSS; MILD SUPRATENTORIAL VENTRICULOMETRY AND DIFFUSE WHITE MATTER SIGNAL ABNORMALITY.

Treatments and Assistive Devices

Hearing aid

Surgeries

ADENOIDECTOMY

Medications

KLONOPIN 0.5MG; PROBIOTIC; LEXAPRO 10MG; RITALIN 10MG; LOESTIN 24 FE; TRILEPTAL

Family History

Remarks

See "Phenotypic Data Tab"