Comparison of Clinical Features among Children of Multicultural Families, Ethnic Koreans and Native Koreans

PURPOSE: To explore whether genetic and environmental factors influenced ophthalmic disease among children of multicultural families, ethnic Koreans, and native Koreans. METHODS: In this retrospective study, 120 patients who visited the pediatric ophthalmology clinic of a university hospital were included. They were equally divided into three groups: a multicultural group, an ethnic Korean group, and a native Korean group. Parental nationalities, age, gender, chief complaint, visual acuity, refractive error, diagnosis at the initial visit and the extent of compliance with treatment were analyzed. RESULTS: Of the multicultural group, 14 (35%) of 40 patients were Chinese immigrants, and constituted the most common subgroup. None of the age at initial visit, gender, the prevalence of refractive error, or amblyopia status differed significantly among the three groups. In the multicultural and native Korean groups, the proportions of abnormal eye positioning as the chief complaint were higher than that of the ethnic Korean group (p = 0.005). The most common diagnosis in the two former groups was strabismus. Myopia was the most common diagnosis in the ethnic Korean group. The prevalence of strabismus in the multicultural group (55%) was significantly higher than that in the native Korean group (30%) and the ethnic Korean group (20%) (p = 0.003). The prevalence of strabismus in the multicultural group was significantly higher than in the other groups (p = 0.003). However, we found no significant difference in strabismus subtype among the three groups. In the general family group, the extent of loss to follow-up was significantly higher than in the other groups (p = 0.002). CONCLUSIONS: The chief complaint, the prevalence of ophthalmic disease, and the compliance rate differed significantly among the three groups. Both genetic and environmental factors may have played a role.

Korean Familial Amyotrophic Lateral Sclerosis Family with a Novel Gly10Val Mutation in the SOD1 Gene

BACKGROUND: Approximately 5 to 10% of amyotrophic lateral sclerosis (ALS) patients have recorded family history (FALS) and in most cases, the pattern of inheritance is autosomal dominant (DFALS). Twenty percent of DFALS families are linked to chromosome 21q22.1, which is associated to a mutation in the Cu/Zn superoxide dismutase (SOD1) gene. However, these cases, especially with SOD1 gene mutations have not yet been reported in Korea. We investigated the clinical features of familial ALS pedigrees and screened the SOD1 gene in search of potential mutations. METHODS: The clinical histories and neurological findings of the family members were obtained. Genomic DNA was extracted from leukocytes of whole blood samples and PCR and direct sequencing analyzed the coding region of the SOD1 gene. RESULTS: Five affected members in a three-generation family exhibited early onset and rapid progression. The family has a novel missense mutation in the SOD1 gene, which was heterozygous for point mutation GGC to GTT, causing a substitution of valine for glycine at codon 10 (Gly10Val) in exon 1. CONCLUSIONS: Familial ALS with a novel Gly10Val mutation in the SOD1 gene showed severe clinical features. The mutation lies in a region involved in a dimer contact in the third-dimensional structure of the SOD1 protein. This study is the first report of familial ALS cases in Korea and contributes to expand the number of ALS-associated SOD1 gene mutations.

A Korean Family with Thalassemia Intermedia due to Co-inheritance of Triplicated alpha-Globin Genes (alphaalpha/alphaalphaalphaanti3.7) and beta-Thalassemia Trait (IVSII-1 G -> A) / 대한혈액학회지

We report a Korean family in which the interaction of a triplicated alpha-globin locus and a heterozygous beta-thalassemia gives rise to a clinical phenotype of thalassemia intermedia. The propositus, a 36year-old woman, was evaluated because of moderately severe chronic anemia. Molecular analysis revealed heterozygosity for a single beta-thalassemia mutation, IVSII-1 (G->A). Additionally, she was found to have co-inherited a triplicated alpha-globin gene (alphaalpha/alphaalphaalphaanti3.7). In contrast, her brother heterozygous for the same triplicated alpha-locus and beta-thalassemia was clinically normal, suggesting that the delicate balance between alpha- and beta-chains is controlled by other currently not identified factors. Thalassemia intermedia due to co-inheritance of alphaalpha/alphaalphaalphaanti3.7 and IVSII-1 (G->A) was rare, and in Korea, this patient is the first case of thalassemia intermedia attributable to this combined abnormalities.