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NA29051 DNA from Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

12 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Subject Type trio
Ethnicity Not Hispanic/Latino
Ethnicity Norwegian, German, English
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
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.

Characterizations

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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)

Phenotypic Data

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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
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
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
Additional Information:  No Data
Birth History Information
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
Additional Information:  COMPLICATED PREGNANCY DUE TO TOXEMIA
Dysmorphic Features
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
Additional Information:  No Data
Neurological Symptoms
Neuropathy:  No Data
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
Additional Information:  WHOLE BODY TREMOR MIGRAINES LEUKODYSTROPHY END-POINT DYSMETRIA
Optical and Audiological Symptoms
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
Additional Information:  No Data
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:  HIP DEFORMATION TIGHTNESS OF GASTROCNEMII FEMORAL ANTEVERSION MILD EQUINUS CONTRACTURE
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
Holding Head Up Without Assistance:  No Data
Sitting Without Assistance:  No Data
Walking Without Assistance:  No Data
Running:  No Data
Additional Information:  REGRESSION OF GROSS MOTOR SKILLS
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:  DROOLING
Genitourinary Symptoms
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
Additional Information:  INCONTINENCE
Respiratory and Cardiovascular Symptoms
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
Additional Information:  TACHYCARDIA HIGH BLOOD PRESSURE RESTRICTIVE LUNG DISEASE
Cognitive and Behavioral Symptoms
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
Intellectual Disability:  No Data
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
Optical and Audiological Testing:  No Data
Musculoskeletal and Developmental Testing:  No Data
Respiratory and Cardiovascular Testing:  ABNORMAL EKG
Cognitive and Behavioral Testing:  No Data
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)
Uncategorized Testing:  No Data
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
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
 No Data
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.

Publications

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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

External Links

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Gene Cards MANBA
Gene Ontology GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004567 beta-mannosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006464 protein modification
NCBI Gene Gene ID:4126
NCBI GTR 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
OMIM 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
Omim Description BETA-MANNOSIDASE DEFICIENCYMANNOSIDASE, BETA A, LYSOSOMAL, INCLUDED; MANBA, INCLUDED
  MANNOSIDASE, BETA B, SOLUBLE, INCLUDED; MANBB, INCLUDED
  MANNOSIDOSIS, BETA; MANB1
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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