Genetic studies in congenital anterior midline cervical cleft

L P Jakobsen; P Pfeiffer; M Andersen; H Eiberg; L Hansen; Y Mang; M Bak; R S Møller; L L Klitten; N Tommerup

doi:10.1002/ajmg.a.35466

Genetic studies in congenital anterior midline cervical cleft

L P Jakobsen, P Pfeiffer, M Andersen, H Eiberg, L Hansen, Y Mang, M Bak, R S Møller, L L Klitten, N Tommerup

Institut for Cellulær og Molekylær Medicin

8 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	158A
Udgave nummer	8
Sider (fra-til)	2021-6
Antal sider	6
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.35466
Status	Udgivet - aug. 2012

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10.1002/ajmg.a.35466

Citationsformater

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title = "Genetic studies in congenital anterior midline cervical cleft",

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.",

author = "Jakobsen, {L P} and P Pfeiffer and M Andersen and H Eiberg and L Hansen and Y Mang and M Bak and M{\o}ller, {R S} and Klitten, {L L} and N Tommerup",

note = "Copyright {\textcopyright} 2012 Wiley Periodicals, Inc.",

year = "2012",

month = aug,

doi = "10.1002/ajmg.a.35466",

language = "English",

volume = "158A",

pages = "2021--6",

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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

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

SN - 1552-4825

VL - 158A

SP - 2021

EP - 2026

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 8

ER -

Genetic studies in congenital anterior midline cervical cleft

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