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GM28210 Fibroblast from Skin, Skin

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
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
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
ISCN 46,XX[20]
Species Homo sapiens
Common Name Human
Remarks See "Phenotypic Data" tab; same subject as GM28206 (lymph) and GM28891 (iPSC); unaffected mother is GM28208 (lymph) and GM28211 (fibro) and unaffected father is GM28209 (lymph) and GM28212 (fibro).

Characterizations

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PDL at Freeze 5.22
Passage Frozen 2
 
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
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  BIRTH
Age at Diagnosis:  3 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Optical and Audiological Symptoms
Defective vision
Musculoskeletal Symptoms
Developmental Milestones
Global developmental delay
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
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Intellectual Disability:  Moderate
Additional Information
Testing Performed
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
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
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; same subject as GM28206 (lymph) and GM28891 (iPSC); 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

Culture Protocols

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Cumulative PDL at Freeze 5.22
Passage Frozen 2
Split Ratio 1:3
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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