Description:
MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Subject Type
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trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Norwegian, German, English
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.4 |
| Passage Frozen |
2 |
| |
| Gene |
MANBA |
| Chromosomal Location |
4q24 |
| Allelic Variant 2 |
Trp > STOP; Mannosidosis, beta |
| Identified Mutation |
c.563_5/2dup (p.Trp192*) |
| |
| Gene |
MANBA |
| Chromosomal Location |
4q24 |
| Allelic Variant 2 |
; MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
| Identified Mutation |
c.1499G>A (p.Arg500His) |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
12 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
9 MO |
| Age at Diagnosis(If not a control) |
4 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: |
MANBA, C.563_572DUP, P.TRP192*, EXON 05
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| Zygosity: |
Compound Heterozygous |
| Other variants: |
MANBA, C.1499G>A, P.ARG500HIS, EXON 12 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
9 MONTHS |
| Age at Diagnosis: |
4 YEARS |
| In Utero History Information |
| |
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| Birth History Information |
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Caesarian section
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| Additional Information: |
COMPLICATED PREGNANCY DUE TO TOXEMIA |
| Dysmorphic Features |
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Macrocephaly
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| Neurological Symptoms |
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Ataxia
Hypotonia
Structural brain anomaly
Sleep abnormalities
Unstable gait
White matter issues
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| Additional Information: |
WHOLE BODY TREMOR
MIGRAINES
LEUKODYSTROPHY
END-POINT DYSMETRIA |
| Optical and Audiological Symptoms |
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Nystagmus
Blindness
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| Musculoskeletal Symptoms |
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Scoliosis
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| Additional Information: |
HIP DEFORMATION
TIGHTNESS OF GASTROCNEMII
FEMORAL ANTEVERSION
MILD EQUINUS CONTRACTURE |
| Developmental Milestones |
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Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
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| Additional Information: |
REGRESSION OF GROSS MOTOR SKILLS |
| Gastrointestinal Symptoms |
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Constipation
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| Additional Information: |
DROOLING |
| Genitourinary Symptoms |
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| Additional Information: |
INCONTINENCE |
| Respiratory and Cardiovascular Symptoms |
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|
| Additional Information: |
TACHYCARDIA
HIGH BLOOD PRESSURE
RESTRICTIVE LUNG DISEASE |
| Cognitive and Behavioral Symptoms |
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Anxiety
Autism spectrum disorder
Sensory processing disorder
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| Additional Information: |
EPISODES OF NIGHT TERROR
EXPRESS/RECEPTIVE LANGUAGE AND COGNITIVE IMPAIRMENT |
| Additional Information |
| Uncategorized Symptoms: |
FATIGUE
VERTIGO
FOOT PAIN |
| Testing Performed |
| Neurological Testing: |
EXCESS KNEE FLEXION |
| Respiratory and Cardiovascular Testing: |
ABNORMAL EKG |
| Metabolic, Hematologic, and Endocrinologic Testing: |
2% BETA-MANNOSE PRE-TRANSPLANT
FREE T4: 0.75 (LOW)
TOTAL BILIRUBIN 0.3 (LOW)
WBC 3.9 (LOW)
MONOCYTES 13.3 (HIGH)
BASOPHILS 0.8 (HIGH)
NEUTROPHILS 1,190 (LOW)
TRIGLYCERIDES 142 (HIGH) |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
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| Surgeries |
UMBILICAL CORD BLOOD TRANSPLANT AT 4 YEARS OF AGE |
| Additional Testing: |
WALKER
VISION AIDS (IPAD) |
| Medications |
| |
GABAPENTIN FOR NYSTAGMUS
APPLIED BEHAVIORAL ANALYSIS
CONCERTA FOR INCONTINENCE
BOTOX AT AGE OF 9 |
| Family History |
| Remarks |
Clinically affected. Beta-mannosidosis; hypomyelination. Umbilical cord blood transplant at age of 4 (PMID: 31115173), and a major regression 4 months later. Global developmental delay. Leukodystrophy. Hypotonia. Regression of gross motor skills. Vision affected at 11, currently blind. Recent tachycardia. Autism spectrum disorder. Compound heterozygous mutation in the MANBA gene: c.563_572dup (pathogenic) and c.1499G>A (VUS). Parents are GM29071 and GM29118. See "Phenotypic Data" tab. |
| Lund TC, Miller WP, Eisengart JB, Simmons K, Pollard L, Renaud DL, Wenger DA, Patterson MC, Orchard PJ, Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis Molecular genetics & genomic medicine7:e00712 2019 |
| PubMed ID: 31115173 |
| Gene Cards |
MANBA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004567 beta-mannosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006464 protein modification |
| NCBI Gene |
Gene ID:4126 |
| NCBI GTR |
248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
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609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA |
| OMIM |
248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
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609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA |
| Omim Description |
BETA-MANNOSIDASE DEFICIENCYMANNOSIDASE, BETA A, LYSOSOMAL, INCLUDED; MANBA, INCLUDED |
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MANNOSIDASE, BETA B, SOLUBLE, INCLUDED; MANBB, INCLUDED |
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MANNOSIDOSIS, BETA; MANB1 |
| Cumulative PDL at Freeze |
5.4 |
| Passage Frozen |
2 |
| Split Ratio |
1:9 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
| Supplement |
- |
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