http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 저자 : Go Hun Seo (검색결과 68 건)
- 무료
- 기관 내 무료
- 유료
-
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Seo, Go Hun,Kim, Ja Hye,Cho, Ja Hyang,Kim, Gu-Hwan,Seo, Eul-Ju,Lee, Beom Hee,Choi, Jin-Ho,Yoo, Han-Wook The Korean Pediatric Society 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.1
Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.
-
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo,Ja Hye Kim,Ja Hyang Cho,Gu Hwan Kim,Eul-Ju Seo,Beom Hee Lee,Jin Ho Choi,Han-Wook Yoo 대한소아청소년과학회 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.1
Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.
-
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums
Seo, Go Hun,Kim, Yoon-Myung,Kang, Eungu,Kim, Gu-Hwan,Seo, Eul-Ju,Lee, Beom Hee,Choi, Jin-Ho,Yoo, Han-Wook Williams & Wilkins Co 2018 Medicine Vol.97 No.20
<▼1><P>Supplemental Digital Content is available in the text</P></▼1><▼2><P><B>Abstract</B></P><P>Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.</P><P>The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with suspected MFS and LDS were investigated as a retrospective manner. In patients with suspected MFS patients, genetic testing was conducted in half of 44 patients who met the revised Ghent criteria clinically and half of 39 patients who did not meet these criteria.</P><P>Fibrillin1 gene (<I>FBN1</I>) variants were detected in all the 22 patients (100%) who met the revised Ghent criteria and in 14 patients (77.8%) who did not meet the revised Ghent criteria (<I>P</I> <I>=</I> .0205). Patients with mutations in exons 24–32 were diagnosed at a younger age than those with mutations in other exons. Ectopia lentis was more common in patients with missense mutations than in patients with other mutations. Aortic diameter was greater in patients with missense mutations in cysteine residues than in patients with missense mutations in noncysteine residues. Five LDS patients had either <I>TGFBR1</I> or <I>TGFBR2</I> variants, of which 1 patient identified <I>TGFBR1</I> variant uncertain significance.</P><P>The revised Ghent criteria had very high clinical applicability for detecting <I>FBN1</I> variants in patients with MFS and might help in selecting patients with suspected MFS for genetic testing.</P></▼2>
-
-
-
Turner syndrome presented with tall stature due to overdosage of the SHOX gene
Go Hun Seo,Eungu Kang,Ja Hyang Cho,Beom Hee Lee,Jin Ho Choi,Gu Hwan Kim,Eul-Ju Seo,유한욱 대한소아내분비학회 2015 Annals of Pediatirc Endocrinology & Metabolism Vol.20 No.2
Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligationdependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5’-end of the SHOX gene through the FANCD gene at Xp22.2.
-
Ehlers–Danlos syndrome VIII with novel C1R variant accompanying white matter changes
Go Hun Seo,Yoon-Myung Kim,Byeongzu Ghang,Gu-Hwan Kim,Beom Hee Lee 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.1
Ehlers–Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intrac-table periodontal inḀammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identiἀed in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodonti-tis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without deἀnite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inḀammation processes such as changes in brain white matter.
-
An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
Go Hun Seo,Arum Oh,Minji Kang,Eun Na Kim,Ja-Hyun Jang,Dae Yeon Kim,Kyung Mo Kim,Han-Wook Yoo,Beom Hee Lee 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.1
KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anoma-lies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difἀcult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofa-cial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5-9 of the ANKRD11 gene was identiἀed in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.
-
Seo, Go Hun,Kim, Yoon-Myung,Kim, Gu-Hwan,Seo, Eul-Ju,Choi, Jin Ho,Lee, Beom Hee,Yoo, Han-Wook Korean Society of Medical Genetics and Genomics 2018 대한의학유전학회지 Vol.15 No.1
WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.
-
Exome and genome sequencing for diagnosing patients with suspected rare genetic disease
Go Hun Seo,Hane Lee 대한의학유전학회 2023 대한의학유전학회지 Vol.20 No.2
Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients’ families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of nextgeneration sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.
연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
