Search Results

3.A Case of Coexistence of Disseminated Superficial Porokeratosis with Porokeratosis of Mibelli.

Ji Hyun KIM ; Seok Hyun HAN ; Ho Seok SUH ; Yu Sung CHOI

Korean Journal of Dermatology 2018;56(3):220-221

4.A Case of Acneiform Eruption Induced by Bevacizumab

Seok Hyun HAN ; Ji Hyun KIM ; Yong Woo OH ; Dong Hee KIM ; Yu Sung CHOI ; Ho Seok SUH

Korean Journal of Dermatology 2019;57(3):159-161

5.Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.

Yeonkyung KIM ; Ho Seok LEE ; Jung Seok YU ; Kangmo AHN ; Chang Seok KI ; Jihyun KIM

Korean Journal of Pediatrics 2014;57(1):46-49

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.
Adenosine Triphosphate ; CHARGE Syndrome* ; Chromatin Assembly and Disassembly ; Coloboma ; Diagnosis ; Ear ; Genetic Counseling ; Heart ; Humans ; Mutation, Missense ; Nasopharynx ; Parturition