Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
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초록
Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg after 37 weeks of gestation. She exhibited a number of characteristic features including a small thoracic cage, bowing of both femurs, clubbed feet, hypoplastic scapula, 11 pairs of ribs, a bell-shaped narrow thorax, micrognathia, macroglossia, a cleft palate, a flattened nasal bridge, and low set ears. She experienced additional distress because of the presence of a tracheal ring and because she had tracheomalacia. CD was diagnosed through nucleotide sequence analysis. A frameshift mutation, c.235delC (p.Gln79Argfs*31), was identified in the SOX9 gene that has not previously been reported.
Abstract
Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg after 37 weeks of gestation. She exhibited a number of characteristic features including a small thoracic cage, bowing of both femurs, clubbed feet, hypoplastic scapula, 11 pairs of ribs, a bell-shaped narrow thorax, micrognathia, macroglossia, a cleft palate, a flattened nasal bridge, and low set ears. She experienced additional distress because of the presence of a tracheal ring and because she had tracheomalacia. CD was diagnosed through nucleotide sequence analysis. A frameshift mutation, c.235delC (p.Gln79Argfs*31), was identified in the SOX9 gene that has not previously been reported.
참고문헌 (15)
- "Campomelic dysplasia" (1993)[URL]
- Mansour S, "A clinical and genetic study of campomelic dysplasia", J Med Genet, 32, pp.415~420 (1995)
- Symon A, "SOX9 : a genomic view of tissue specific expression and action", Int J Biochem Cell Biol, 87, pp.18~22 (2017)
- Foster JW, "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene", Nature, 372, pp.525~530 (1994)
- Kwok C, "Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal", Am J Hum Genet, 57, pp.1028~1036 (1995)
- Hattori T, "SOX9 is a major negative regulator of cartilage vascularization, bone marrow formation and endochondral ossification", Development, 137, pp.901~911 (2010)
- Lefebvre V, "SOX9 is a potent activator of the chondrocytespecific enhancer of the pro alpha1(II) collagen gene", Mol Cell Biol, 17, pp.2336~2346 (1997)
- Bell DM, "SOX9 directly regulates the type-II collagen gene", Nat Genet, 16, pp.174~178 (1997)
- Kent J, "A male-specific role for SOX9 in vertebrate sex determination", Development, 122, pp.2813~2822 (1996)
- Bernard P, "Dimerization of SOX9 is required for chondrogenesis, but not for sex determination", Hum Mol Genet, 12, pp.1755~1765 (2003)
- 김형영, "A Case of Campomelic Dysplasia without Sex Reversal", Journal of Korean Medical Science, 26(1), pp.143~145 (2011), 대한의학회
- 고정민, "A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene", Journal of Genetic Medicine, 9(2), pp.89~92 (2012), 대한의학유전학회
- Meyer J, "Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal : lack of genotype", phenotype correlations, 1997, pp.6, 91~98
- Mansour S, "The phenotype of survivors of campomelic dysplasia", J Med Genet, 39, pp.597~602 (2002)
- Pfeifer D, "Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region", Am J Hum Genet, 65, pp.111~124 (1999)