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Genetic studies in congenital anterior midline cervical cleft
Author(s) -
Jakobsen L.P.,
Pfeiffer P.,
Andersen M.,
Eiberg H.,
Hansen L.,
Mang Y.,
Bak M.,
Møller R.S.,
Klitten L.L.,
Tommerup N.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35466
Subject(s) - omim : online mendelian inheritance in man , exome sequencing , mendelian inheritance , comparative genomic hybridization , genetics , biology , etiology , exome , candidate gene , mutation , medicine , gene , pathology , phenotype , genome
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.