Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
نویسندگان
چکیده
منابع مشابه
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.
Mutations in the gene SOX9 result in the syndrome of campomelic dysplasia (CD) which includes sex-reversal in 75% of 46,XY affected individuals. These mutations only affect a single allele of SOX9 suggesting a dominant mode of inheritance for this syndrome. Consequently, CD and autosomal sex reversal may result from haploinsufficiency of SOX9. The SOX9 gene maps to the long arm of human chromos...
متن کاملA Case of Campomelic Dysplasia without Sex Reversal
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flatte...
متن کاملTranslocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malform...
متن کاملA SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal.
During mammalian sex determination, SOX9 is translocated into the nuclei of Sertoli cells within the developing XY gonad. The N-terminal nuclear localization signal (NLS) is contained within a SOX consensus calmodulin (CaM) binding region, thereby implicating CaM in nuclear import of SOX9. By fluorescence spectroscopy and glutaraldehyde cross-linking, we show that the SOX9 HMG domain and CaM in...
متن کاملA Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene
period, and respiratory distress due to laryngotracheomalacia contributes to neonatal death in these patients. Therefore, only a few patients with CMD survive past infancy. Survivors beyond infancy may also have scoliosis, short stature, and hearing loss with age. CMD is caused by haploinsufficiency of the SOX9 gene at 17q24. The SOX9 protein is widely expressed as a transcription factor in man...
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ژورنال
عنوان ژورنال: Neonatal Medicine
سال: 2020
ISSN: 2287-9412,2287-9803
DOI: 10.5385/nm.2020.27.4.197