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Clinical characterization of a Korean case with 3p25 deletion
이혜진,김자혜,조자항,최진호,유한욱 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.2
Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.
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Clinical characterization of a Korean case with 3p25 deletion
이혜진,김자혜,조자항,이범희,최진호,유한욱 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.1
Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm ofchromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several othercongenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome,including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenitalheart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variableamong patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identifyother cases with 3p deletion syndrome from a clinical and genetic perspective.
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A case of Mowat–Wilson syndrome with developmental delays and Hirschsprung’s disease
유한욱,이다래,김자혜,조자항,오문연,이범희,김구환,최진호 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.2
Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facialdysmorphism, Hirschsprung’s disease, and other congenital anomalies. This disorder is caused by heterozygous mutationsor deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilsonsyndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has beenpreviously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays,typical facial dysmorphism, and Hirschsprung’s disease. Molecular analysis of ZEB2 identified a novel heterozygous mutationat c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome thathas been confirmed genetically.
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오문연,유한욱,김준석,김자혜,조자항,이범희,김구환,최진호 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.2
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductasedeficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiplemalformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient withSLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second andthird toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a reviewof the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This reportdescribes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient withSLOS.
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A familial case with brachydactyly type C with a GDF5 mutation
예혜련,이범희,김자혜,조자항,김구환,김재민,최인희,유한욱 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.1
Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/orproximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5 )gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized bybrachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variabilityof the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics ofthis condition in the Korean population.
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