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NA28206 DNA from LCL

Description:

SCHUURS-HOEIJMAKERS SYNDROME; SHMS
PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Asian
Ethnicity Not Hispanic/Latino
Ethnicity Bangladeshi
Country of Origin CANADA
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 See "Phenotypic Data" tab; fibro is GM28210; unaffected mother is GM28208 (lymph) and GM28211 (fibro) and unaffected father is GM28209 (lymph) and GM28212 (fibro).

Characterizations

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Gene PACS1
Chromosomal Location 11q13.1-q13.2
Allelic Variant 1 607492.0001; SCHUURS-HOEIJMAKERS SYNDROME
Identified Mutation R203W (c.607C>T); In 2 unrelated boys with mental retardation and a strikingly similar facial appearance (SHMS; 615009), Schuurs-Hoeijmakers et al. (2012) identified a recurrent de novo mutation in the PACS1 gene, resulting in a missense mutation (R203W; 607492.0001) in the furin (cargo) binding region directly adjacent to the CK2 binding motif. Schuurs-Hoeijmakers et al. (2012) found that altered PACS1 forms cytoplasmic aggregates in vitro with concomitant increased stability and showed impaired binding to an isoform-specific variant of TRPV4 (605427), but not the full-length protein.

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 9 YR
Sex Female
Age at Diagnosis(If not a control) 3 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category Asian
Country CANADA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  TARGETED SANGER SEQUENCE ANALYSIS DETECTED A HETEROZYGOUS VARIANT IN THE PACS1 GENE (NM_018026.3): C.607C>T(P.ARG203TRP)
Zygosity:  Heterozygous
Other variants:  No Data
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  BIRTH
Age at Diagnosis:  3 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:  No Data
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:  No Data
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:  No Data
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:  INTELLECTUAL AND DEVELOPMENTAL DISABILITY; COMPLETES 3-PIECE BLOCK DESIGN WITH EXTRAS INDEPENDENTLY; IMITATES A VARIETY OF WORDS AND 10 THREE-WORD PHRASES, FINE MOTOR IMITATION; MANDS FOR PREFERRED ITEMS AND ACTIVITIES INDEPENDENTLY; LABELS UP TO 3 DIFFERENT PARTS OF 8 DIFFERENT OBJECTS; IDENTIFIES WHO, WHAT, WHERE OF PICTURES; FILLS IN 16 ITEMS WHEN GIVEN THE FUNCTION; LOOKS AT THERAPIST WHEN ACCEPTING REINFORCING ITEM; PLAYS DUCK DUCK GOOSE AND RED LIGHT GREEN LIGHT WITH THERAPIST; DRESSES INDEPENDENTLY; WASHES AND DRIES HANDS AND BRUSHES HAIR WITH PROMPTS; READS SIMPLE WORDS INDEPENDENTLY; TRACES SIMPLE LINES AND SHAPES
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:  No Data
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:  No Data
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:  No Data
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:  Moderate
Additional Information:  No Data
Additional Information
Uncategorized Symptoms:  No Data
Testing Performed
Neurological Testing:  No Data
Optical and Audiological Testing:  No Data
Musculoskeletal and Developmental Testing:  No Data
Respiratory and Cardiovascular Testing:  No Data
Cognitive and Behavioral Testing:  BASED ON ASSESSMENT OF BASIC LANGUAGE AND LEARNING SKILLS (ABLLS-R) RESULTS: AREAS OF STRENGTH INCLUDE COOPERATION AND REINFORCER EFFECTIVENESS, RECEPTIVE LANGUAGE, MOTOR IMITATION, VOCAL IMITATION, SPONTANEOUS VOCALIZATION, SOCIAL INTERACTION; AREAS OF NEED INCLUDE VISUAL PERFORMANCE, REQUESTS, LABELING, INTRAVERBAL LANGUAGE, PLAY SKILLS, GROUP INSTRUCTION, AND CLASSROOM ROUTINES
Metabolic, Hematologic, and Endocrinologic Testing:  No Data
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  No Data
Additional Testing:  ADDITIONAL TREATMENT AND ASSISTIVE DEVICES: ABA (APPLIED BEHAVIOR THERAPY) / IBI (INTENSIVE BEHAVIOR INTERVENTION); GLASSES
Medications
 ANTI-SEIZURE MEDICATION - VALPROIC ACID, CARNITOR; HERBALGEM COMPLEXES G4, G7, G9, G8; ROYAL JELLY
Family History
 MOTHER (LYMPH GM28208, FIBRO GM28211) AND FATHER (LYMPH GM28209, FIBRO GM28212) ARE UNAFFECTED.
Remarks See "Phenotypic Data" tab; fibro is GM28210; unaffected mother is GM28208 (lymph) and GM28211 (fibro) and unaffected father is GM28209 (lymph) and GM28212 (fibro).

External Links

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Gene Cards PACS1
NCBI Gene Gene ID:55690
NCBI GTR 607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
615009 SCHUURS-HOEIJMAKERS SYNDROME; SHMS
OMIM 607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
615009 SCHUURS-HOEIJMAKERS SYNDROME; SHMS
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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