Name：NTCC? NA20735 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20735
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: 11 YR
Gender性別: Female
Description描述: SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1
Remarks: Clinically affected; born at 42 weeks gestation; birth weight = 4.1 kg; behavior problems noted at age 9 months with explosive tantrums; frequent irritability with sleep disturbance in infancy; microcephaly diagnosed as an infant (head circumference < 5th percentile) but head growth gradually improved to normal range; height and weight remained at 25th percentile throughout early childhood with gradual increases over time; sat at age 6 months; walked at age 12 months; speech was delayed and regressed at age 4 years with onset of seizures; seizures were complex and involved grand mal, Jacksonian, and petit mal episodes; language, psychosocial, motor, and cognitive skills below the 7th percentile; IQ = 57 on Wechsler scale; self-hugging; attention seeking; head banging; twirling of objects; onychotillomania; polyembolokoilamania of rectum, umbilicus, ears, and mouth; no abnormal sleep patterns at age 11 years (but sedated as a component of seizure therapy); at age 11 years, height and weight about 75th percentile and head circumference at 50th percentile; flat occiput and round face (like mother's); no midface hypoplasia; full lips with tenting of upper lip; multiple small, nonpigmented papillae on tongue; two 2x3 cm cafe-au-lait spots on trunk; eczema behind ears; brachycephaly; no synophrys; brachydactyly; hoarse, deep voice; no recurrent ear infections; hypotonia; no myopia, strabismus, or iris abnormalities; no structural cardiovascular or renal anomalies; EEG showed 2.5-5 Hz delta activity with medium to high amplitude spikes, sharps and polyspikes seen over the right central parietal, right occipital and bifrontal regions; MRI showed slight asymmetry in the gyral sulcation pattern along the left posterior frontal lobe in the precentral gyrus; normal karyotype; no evidence of 17p11.2 deletion; donor subject has a de novo A>G transition at nucleotide 4685 in exon 3 of the RAI1 gene [4685A>G] resulting in a substitution of arginine for glutamine at codon 1562 [Gln1562Arg (Q1562R)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: RAI
Disease疾病類型:
Mutations突變: GLN1562ARG
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