000			03285cam a2200349 a 4500
003			EG-GiCUC
005			20250223032652.0
008			210109s2020 ua dh f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aPh.D
099			_aCai01.12.02.Ph.D.2020.As.M
100	0		_aAsmaa Fawzy Abdelaleem Moustafa
245	1	0	_aMutational study of NPC1 gene in a sample of niemann-pick type C patients / _cAsmaa Fawzy Abdelaleem Moustafa ; Supervised Mohamed Ahmed Badawy , Mona Lotfi Essawy , Ekram Maher Fateen
246	1	5	_aدراسة للطفرات الموجودة فى الجين (إن. بى. سى 1) فى مجموعة من المرضى المصابين بمرض النيمين - بيك النوع - سى
260			_aCairo : _bAsmaa Fawzy Abdelaleem Moustafa , _c2020
300			_a105 P. : _bcharts , facsimiles ; _c25cm
502			_aThesis (Ph.D.) - Cairo University - Faculty of Science - Department of Biochemistry
520			_aNiemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2 in the remaining cases. It is characterized by an impaired intracellular lipid trafficking leading to the aggregation of unesterified cholesterol and various sphingolipids in different body organs such as the liver, spleen, and brain. The estimated incidence of NPC is 1/100000. Although early disease diagnosis is very crucial for proper initiation of treatment and inhibition of disease progression, proper diagnosis at the early stages of the disease is difficult due to its wide heterogeneous clinical presentation. In our study, we aimed at the molecular diagnosis of NPC in Egyptian patients and investigate certain NPC1 mutations hotspots residues (855{u2013}1098) and (1038{u2013}1253) in the NPC1 gene. This study included 15 Egyptian patients derived from 15 families. Consanguinity was certain in 12 families (80%). They were 9 males (60%) and 6 females (40%) and their age ranged from 6 months to 10 years. The onset of disease varied from early infantile to juvenile form. Accordingly, our patients were classified into early infantile (<2 years) in 7 patients (46.7%), late-infantile (2{u2013}5 years) in 4 patients (26.7%), juvenile (5{u2013}16 years) in 1 patient (6.7%). Assessment of peripheral leukocytic Ý-glucocerebrosidase and peripheral leukocytic acid sphingomyelinase enzymes showed normal values in all patients, while a remarkable elevated level in the chitotriosidase assay was observed for all patients in compared to control. Molecular analysis of the 9 exons of NPC1 (exons 17-25) confirmed 6 different mutations (15 mutant alleles out of 30 studied alleles). They are distributed as follows, two homozygous missense novel mutations in the amino acid residue (1038-1253)
530			_aIssued also as CD
653		4	_aAutosomal recessive
653		4	_aLysosomal storage disorder
653		4	_aNiemann-Pick type C
700	0		_aEkram Maher Fateen , _eSupervsior
700	0		_aMohamed Ahmed Badawy , _eSupervsior
700	0		_aMona Lotfi Essawy , _eSupervsior
856			_uhttp://172.23.153.220/th.pdf
905			_aNazla _eRevisor
905			_aShimaa _eCataloger
942			_2ddc _cTH
999			_c79499 _d79499