Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.
作者信息
Masood Maheer M, Mieczkowski Piotr, Malc Ewa P, Foreman Ann Katherine M, Evans James P, Clark J Madison, Rose Austin S
机构信息
Department of Otolaryngology-Head and Neck Surgery, University of Kansas Medical Center, Kansas City, KS, USA.
Department of Genetics, School of Medicine, University of North Carolina, Chapel Hill, NC, USA.
出版信息
Ann Otol Rhinol Laryngol. 2020 Jul;129(7):653-656. doi: 10.1177/0003489420906180. Epub 2020 Feb 6.
OBJECTIVES
Congenital midline cervical cleft (CMCC) is a rare congenital anterior neck anatomical anomaly. We present the case of two related patients (grandchild and maternal grandmother) who were both born with a congenital midline cervical cleft along with genetic analysis.
METHODS
Clinical examination of both patients and surgical excision of the grandchild was performed. Genetic analysis with exome sequencing (ES) was conducted for both patients.
RESULTS
Genetic analysis with exome sequencing (ES) revealed apparently novel single nucleotide variants in 66 genes present in both proband and grandmother. Five of these variants are predicted to cause frameshifting in the coding region of the respective genes and truncated proteins (). Two of these genes () have homozygous indel mutations in both patients.
CONCLUSIONS
To our knowledge, this is the first case of two related patients with a congenital midline cervical cleft. The results of our genetic analysis reveal potential relevance to CMCC development.
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