Chromosome 11q13 deletion syndrome

Yu Seon Kim,Gun-Ha Kim,Jung Hye Byeon,So-Hee Eun,Baik-Lin Eun 대한소아청소년과학회 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.no.sup1

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-com- parative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

Chromosome 11q13 deletion syndrome

Kim, Yu-Seon,Kim, Gun-Ha,Byeon, Jung Hye,Eun, So-Hee,Eun, Baik-Lin The Korean Pediatric Society 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.no.sup1

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

천식 환아의 형제에서 혈청 총 IgE 농도와 염색체 11q13 유전형 사이의 연관성

김윤근,손지웅,조상헌,이명현,고영률,민경업,김유영 ( Yoon Keun Kim,Jee Wong Son,Sang Heon Cho,Myung Hyun Lee,Young Yull Koh,Kyung Up Min,You Young Kim ) 대한천식알레르기학회 1998 천식 및 알레르기 Vol.18 No.3

Backgrmcnd; It is known that total serum IgE levels closely corrleate with prevaience of asthma regardless of atopic status. Although heredity is reported to be important in expression of total serum IgE in twin studies, genetic factor controlling this phenotype is controversial. Objective .' To evaluate whether genetic factor in chromosome 1 1q13 may control the expres- sion of tatal serum IgE level, linkage analysis between this phenotype and gene marker of chromosome 11q13 was investigated. Material and method: Total serum IgE level and the genotype of chromosome 11q13 with microsatellite marker (D11597) was determined in 73 probands of asthmatic chiMren and 76 their sibs. Statistical significance of linkage was evaluated by affected and quantitative trait locus (QTL) sib-pair analysis. Result: In 20 affected sib-pairs with total serum IgE level higher than 305 IU/ml (geometric mean plus two folds SD in 53 normal controls), two D11S97 alleles were shared by ten sib- pairs, one allele by nine sib-pairs, and no allele by one sib-pairs. Sharing rate of the alleles in affect,ed sib-pairs, was 72.5%, which indicates linkage of the phenotype and genotype (x=4. 27, p=0.03). In 35 sib-pairs with total serum IgE level higher than 170 IU/ml (geometric mean plus one fold SD in 53 normal controls), two D11S97 alleles were shared by 16 sib-pairs, one allele by 15 sib-pairs, and no allele by four sib-pairs. The shar ing rate of the alleles in affected sibpairs, was 67.1%, which indicates linkage of the phenotype and the genotype(x=4. 24, p=0.03). Difference of geometric value of total serum IgE levels between probands and their sibs wa,s smaller in 32 sib-pairs sharing two alleles than in 32 those sharing one allele and 12 those with no identical allele (0.45+0.07 vs. 0.52+0.07 vs. 0.89 +0.21). Conclasion .' The expression of total serum IgE level was linked to gene marker of chromosome 11q13.

천식 환아의 형제에서 흡입성 항원에 의한 피부반응도 및 기관지과민성과 염색체 11q13 유전형 사이의 연관성

김윤근(Yoon Keun Kim),손지웅(Jee Wong Son),조상헌(Sang Heon Cho),이명현(Myung Hyun Lee),고영률(Young Yull Koh),민경업(Kyung Up Min),김유영(You Young Kim) 대한천식알레르기학회 1998 천식 및 알레르기 Vol.18 No.4

Background: Increased IgE antibody responses to inhalant allergens and bronchial hyperres- ponsiveness are important phenotypes in development of asthma. Although heredity reported to be important in expression of these phenotypes in twin and family studies, genetic factor(s) controlling these phenotypes is unknown. Objective: To evaluate whether genetic factor in chromosome 11q13 may control the expression of IgE responses to common inhalant allergens and bronchial hyperresponsiveness, linkage analysis between these phenotypes and gene marker of chromosome 11q13 was investigated. Material and methods: The phenotyping and genotyping using microsatellite marker (D11S97) were performed in 77 probands with bronchial asthma and 80 their sibs. The linkage analysis between these phenotypes and the genotype was evaluated by affected or quantitative trait locus (QTL) sib-pair analysis. Results: Positive skin test responses to inhalant allergens were 55/77(71.4%) in probands and 44/79(55.6%) in sibs, respectively. Positive bronchial provocation test responses to methacholine were 27/61(44.3%) in sibs, geometric mean of PC20-methacholine were 5.2 mg/ ml in probands and 39.4 mg/ml in sibs, respectively, and slope of dose response curve(mean+- SE, %/mg/ml) were 11.3 +- 3.22 in probands and 1.97 +- 0.5 in sibs, respectively. Of 34 sib-pairs with positive skin test responses to allergens, two D11S97 alleles were shared by 21(61.8% ) sib -pairs, one allele by 11(32.3% ) sib-pairs, and no identical allele by two(5.9% ) sib-pairs. In affected sib-pairs, sharing rate of the alleles was 77.9%, which indicates linkage of the phenotype and genotype(p<0.001). Of 25 sib-pairs with bronchial hyperresponsiveness to methacholine, two D11S97 alleles were shared by seven(28%) sib-pairs, one allele by 11(44%) sib-pairs, and no identical allele by seven(28% ) sib-pairs. In affected sib-pairs, sharing rate of the alleles was 50%, which indicates no linkage between the phenotype and genotype(p) 0.05). Differences of geometric value(mean +- SE) of PC-methacholine and slope of dose response curve(mean +- SE, %/mg/ml) were 1.11+- 0.17 and 8.33+- 3.35 in sib-pairs sharing two alleles, respectively, 0.99 +- 0.14 and 14.27+-5.75 in sib-pairs sharing one allele, respectively, and 0.57+-0.13 and 3.64+-1.62 in sib-pairs sharing no allele, respectively. There was no difference of the above values among the three groups. Conclusion: The expression of skin reactivity to common inhalant allergens was linked to gene marker of chromosome 11q13, not with bronchial responsiveness to methacholine.

IgE - 수용체 매개성 호염기구히스타민유리능과 염색체 11q13 유전형 사이의 연관성

김윤근(Y K Kim),조상헌(S H Cho),고영률(Y Y Koh),손지웅(J W Son),민경업(K U Min),김유영(Y Y Kim) 대한내과학회 1999 대한내과학회지 Vol.56 No.3

Objective : To evaluate that genetic factor(s) in chromosome 11q13 may control the expression of basophil histamine release (BaHR) after anti-IgE stimuli, linkage analysis between this phenotype and gene marker of chromosome 11q13 was performed. Material and methods : BaHR after anti-IgE stimuli and genotyping chromosome 11q13 using microsatellite marker (D11S97) was performed in 56 probands with asthma and 59 their sibs. The linkage between the phenotype and the genotype was evaluated by affected and quantitative trait locus (QTL) sib-pair analysis. Results : Maximal BaHR after anti-IgE were 43.3±3.5% in probands and 29.5±2.6% in sibs, respectively. Of 20 sib-pairs with the maximal BaHR more than 33%, 11 (55%) shared two D11S97 alleles, 9 (45%) shared one allele, neither sib-pair shared identical allele. The sharing rate of D11S97 alleles was 75.5%, which indicates linkage of the phenotype and the genotype (p= 0.026). Difference of the maximal BaHR between probands and their sibs was smaller in sib-pairs with two identical alleles than in those with one identical allele and with no identical allele (14.1±2.5% vs. 25.8±3.1% vs. 40.9±4.9%). Conclusion : Expression of basophil histamine release after anti-IgE stimuli was linked to gene marker of chromosome 11q13.

복합적 염색체 이상을 보인 비분비형 형질세포백 혈병 1례

이경아,권오건,오기진,윤갑준,이종인 大韓血液學會 1998 大韓血液學會誌 Vol.33 No.3

Identification and extensive analysis of inverted-duplicated HBV integration in a human hepatocellular carcinoma cell Line

( Jeong Bok ),( Kwang Joong Kim ),( Mi-hyun Park ),( Seung-hak Cho ),( Hye-ja Lee ),( Eun-ju Lee ),( Chan Park ),( Jong-young Lee ) 생화학분자생물학회 2012 BMB Reports Vol.45 No.6

Hepatitis B virus (HBV) DNA is often integrated into hepatocellular carcinoma (HCC). Although the relationship between HBV integration and HCC development has been widely studied, the role of HBV integration in HCC development is still not completely understood. In the present study, we constructed a pooled BAC library of 9 established cell lines derived from HCC patients with HBV infections. By amplifying viral genes and superpooling of BAC clones, we identified 2 clones harboring integrated HBV DNA. Screening of host-virus junctions by repeated sequencing revealed an HBV DNA integration site on chromosome 11q13 in the SNU-886 cell line. The structure and rearrangement of integrated HBV DNA were extensively analyzed. An inverted duplicated structure, with fusion of at least 2 HBV DNA molecules in opposite orientations, was identified in the region. The gene expression of cancer-related genes increased near the viral integration site in HCC cell line SNU-886. [BMB Reports 2012; 45(6): 365-370]