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Genetic studies in congenital anterior midline cervical cleft
- Source :
- Jakobsen, L P, Pfeiffer, P, Andersen, M, Eiberg, H, Hansen, L, Mang, Y, Bak, M, Møller, R S, Klitten, L L & Tommerup, N 2012, ' Genetic studies in congenital anterior midline cervical cleft ', American Journal of Medical Genetics. Part A, vol. 158A, no. 8, pp. 2021-6 . https://doi.org/10.1002/ajmg.a.35466
- Publication Year :
- 2012
-
Abstract
- Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional cytogenetics, array-comparative genomic hybridization (CGH) and whole exome sequencing were performed, including a search of relevant syndromes in the Online Mendelian Inheritance in Man (OMIM) database. Array CGH indicated a loss of the PAPPA gene in one of the patients, while exome sequencing showed a mutation in SIX5 in another patient. Both aberrations were inherited from unaffected parents. These results most likely imply that the identified mutations are not disease-causing, although they may be contributing factors if CAMCC has a polygenic inheritance. © 2012 Wiley Periodicals, Inc.
- Subjects :
- Genetics
Male
Comparative Genomic Hybridization
Conventional cytogenetics
Cleft Lip
Infant
Biology
Quantitative trait locus
medicine.disease
Cleft Palate
Mutation (genetic algorithm)
Etiology
medicine
OMIM : Online Mendelian Inheritance in Man
Humans
Female
Midline cervical cleft
Genetics (clinical)
Exome sequencing
Comparative genomic hybridization
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Jakobsen, L P, Pfeiffer, P, Andersen, M, Eiberg, H, Hansen, L, Mang, Y, Bak, M, Møller, R S, Klitten, L L & Tommerup, N 2012, ' Genetic studies in congenital anterior midline cervical cleft ', American Journal of Medical Genetics. Part A, vol. 158A, no. 8, pp. 2021-6 . https://doi.org/10.1002/ajmg.a.35466
- Accession number :
- edsair.doi.dedup.....57a0413a6bd5696d5b7e58b581de4894