An intragenic deletion of the gene MNAT1 in a family with pectus deformities

Abstract

Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34-month-old male and his father, likely due to a small intragenic deletion of MNAT1 (ménage a trois 1 gene). Both individuals share a deletion of MNAT1 located at 14q23.1 and an interstitial duplication of CHRNA7 located at 15q13.3. Deletion of MNAT1 has been associated with connective tissue abnormalities and is likely the etiology of the malformations, whereas the duplication of CHNRA7 is unlikely related due to the lack of association with any such connective tissue abnormalities.

MAT1 correlates with molecular subtypes and predicts poor survival in breast cancer

“…Diverse CDKs are activated by the CDKactivating kinase (CAK) which is the active trimeric complex of CDK7, cyclin H and menage a trois 1 (MAT1) (8), which results in the protein phosphorylation of CDK2 (9) and the tumor suppressor retinoblastoma (Rb) and ultimately cell cycle G1 stage exit (10). Among these three components, CDK7 (11) and cyclin H (12,13) are the pivotal proteins for the major CAK activity, and the assembly factor MAT1 facilitates the efficient combination of CDK7 and cyclin H. In addition, the CAK complex is a module of the multisubunit transcriptional factor IIH (TFIIH) that participates in RNA polymerase II (Pol II)catalyzed transcription through phosphorylating Pol II Cterminal domain (14) and in DNA nucleotide excision repair by suppressing intrinsic helicase activities (15)(16)(17). These observations indicate that MAT1 might play important roles in cell cycle processes, transcription, and DNA repair.…”

Pectus carinatum, overview and results of orthotic bracing therapy

“…A male predominance is obvious with males being affected 4 times more frequently than females. Pectus carinatum can also be seen in association with Marfan syndrome and congenital heart disease.Although etiology has not been established till now, the increased incidence of positive family history and associated anomalies suggests an abnormality in connective tissue development [6] and abnormal overgrowth of the rib cage during development of the chest wall. Most patients are asymptomatic and symptomatic patients report exertional dyspnea, tachypnea as well as decreased endurance and musculoskeletal chest pain and tenderness, especially when lying in the prone position [7].…”