Name：NTCC? NA25515 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25515
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 4 YR
Gender性別: Female
Description描述: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | DIASTROPHIC DYSPLASIA; DTD
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.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: SH3TC2 SLC26A2
Disease疾病類型:
Mutations突變: p.R279W p.R954X
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net