Genetic studies in congenital anterior midline cervical cleft
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Genetic studies in congenital anterior midline cervical cleft. / Jakobsen, L P; Pfeiffer, P; Andersen, M; Eiberg, H; Hansen, L; Mang, Y; Bak, M; Møller, R S; Klitten, L L; Tommerup, N.
I: American Journal of Medical Genetics. Part A, Bind 158A, Nr. 8, 08.2012, s. 2021-6.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Genetic studies in congenital anterior midline cervical cleft
AU - Jakobsen, L P
AU - Pfeiffer, P
AU - Andersen, M
AU - Eiberg, H
AU - Hansen, L
AU - Mang, Y
AU - Bak, M
AU - Møller, R S
AU - Klitten, L L
AU - Tommerup, N
N1 - Copyright © 2012 Wiley Periodicals, Inc.
PY - 2012/8
Y1 - 2012/8
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.35466
DO - 10.1002/ajmg.a.35466
M3 - Journal article
C2 - 22786797
VL - 158A
SP - 2021
EP - 2026
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 8
ER -
ID: 40840396