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GM25515 Fibroblast

Description:

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
DIASTROPHIC DYSPLASIA; DTD
SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2
SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

Affected:

Yes

Sex:

Female

Age:

4 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
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Old Order Mennonite
Country of Origin USA
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; oligohydramnios; fetal abnormalities noted on ultrasound: shortened long bones, club feet; born term by caesarian section due to suspicion of osteogenesis imperfecta; broad face and nose; cleft palate; mild 'cauliflower' changes of ear cartilage; severe and characteristic kyphoscoliosis= 40 degree rightward curvature thoracic, 30 degree leftward curvature lumbar, 40 degree lumbar lordosis; scoliosis; chest wall is rotationally distorted from clavicle to 12th rib; skeletal dysplasia (short stature); proportionately foreshortened limbs; short, campylodactic fingers; broad thumbs; brachydactyly (toes); genu valgum; talipes equinovalgus (club foot); clubbed toes; significant and symmetric hand weakness (grip strength 2/5) with arm positioning to compensate for weakness, most severe for extensor movements; less evident weakness of lower legs but absent deep tendon reflexes throughout; small atrial septal defect; recurrent pulmonary infection and respiratory insufficiency; gross motor development delayed: sat at 8 months, walked alone at 23 months; cognitive, language, emotional and social development are age-appropriate; exome sequencing revealed novel recessive digenic neuroskeletal disorder caused by pathogenic mutations in two genes: SLC26A2 (diastrophic dysplasia) and SH3CT2 (Charcot-Marie-Tooth type 4C demyelinating peripheral motor-sensory neuropathy) in linkage disequilibrium on chromosome 5; predominant expression of SH3CT2 on plasma membrane and perinuclear endosomes of Schwann cells, also found in spinal cord; surgeries: cleft palate successfully repaired; treated in parallel with myringotomies for two otitis medias with no recurrence; medications: albuterol sulfate, Qvar; family history: brother (not in repository) is also affected with CMT4C and diastrophic dysplasia and has inherited the same gene mutations.

Characterizations

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PDL at Freeze 5.91
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene SLC26A2
Chromosomal Location 5q32
Allelic Variant 1 p.R279W; Diastrophic dysplasia
Identified Mutation p.R279W
 
Gene SH3TC2
Chromosomal Location 5q32
Allelic Variant 1 p.R954X; Charcot-Marie-Tooth disease, type 4C
Identified Mutation p.R954X

Phenotypic Data

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Remarks Clinically affected; oligohydramnios; fetal abnormalities noted on ultrasound: shortened long bones, club feet; born term by caesarian section due to suspicion of osteogenesis imperfecta; broad face and nose; cleft palate; mild 'cauliflower' changes of ear cartilage; severe and characteristic kyphoscoliosis= 40 degree rightward curvature thoracic, 30 degree leftward curvature lumbar, 40 degree lumbar lordosis; scoliosis; chest wall is rotationally distorted from clavicle to 12th rib; skeletal dysplasia (short stature); proportionately foreshortened limbs; short, campylodactic fingers; broad thumbs; brachydactyly (toes); genu valgum; talipes equinovalgus (club foot); clubbed toes; significant and symmetric hand weakness (grip strength 2/5) with arm positioning to compensate for weakness, most severe for extensor movements; less evident weakness of lower legs but absent deep tendon reflexes throughout; small atrial septal defect; recurrent pulmonary infection and respiratory insufficiency; gross motor development delayed: sat at 8 months, walked alone at 23 months; cognitive, language, emotional and social development are age-appropriate; exome sequencing revealed novel recessive digenic neuroskeletal disorder caused by pathogenic mutations in two genes: SLC26A2 (diastrophic dysplasia) and SH3CT2 (Charcot-Marie-Tooth type 4C demyelinating peripheral motor-sensory neuropathy) in linkage disequilibrium on chromosome 5; predominant expression of SH3CT2 on plasma membrane and perinuclear endosomes of Schwann cells, also found in spinal cord; surgeries: cleft palate successfully repaired; treated in parallel with myringotomies for two otitis medias with no recurrence; medications: albuterol sulfate, Qvar; family history: brother (not in repository) is also affected with CMT4C and diastrophic dysplasia and has inherited the same gene mutations.

External Links

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Gene Cards SH3TC2
SLC26A2
Gene Ontology GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006810 transport
GO:0008271 sulfate porter activity
GO:0008272 sulfate transport
NCBI Gene Gene ID:1836
Gene ID:79628
NCBI GTR 222600 DIASTROPHIC DYSPLASIA; DTD
601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2
608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2
OMIM 222600 DIASTROPHIC DYSPLASIA; DTD
601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2
608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2
Omim Description CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING
  CMTND

Culture Protocols

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Cumulative PDL at Freeze 5.91
Passage Frozen 2
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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