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MYCN in human development and diseases.
Front Oncol
May 2024
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Article Synopsis
- - Somatic mutations in MYCN are linked to tumor growth and poor outcomes in various cancers, but researchers are also investigating its role in human development.
- - Traditionally associated with Feingold syndrome, new research connects specific MYCN variants to megalencephaly-polydactyly syndrome, expanding its clinical significance.
- - This review highlights the physiological roles of MYCN, comparing the syndromes associated with it, and explores how these findings can improve our understanding of MYCN-related disorders.
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.
HGG Adv
October 2023
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan. Electronic address:
MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized by microcephaly. In contrast, one megalencephalic patient with a gain-of-function variant in MYCN, p.
View Article and Find Full Text PDFFeingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis).
BMJ Case Rep
March 2023
Genetics Department of Faculty of Medicine, Universidade do Porto, Porto, Portugal.
We report a case of fetal microcephaly found during the second trimester ultrasound and confirmed by further ultrasound scans and fetal MRI. The array comparative genomic hybridisation analysis of the fetus and the male parent showed a 1.5 Mb deletion overlapping the Feingold syndrome region, an autosomal dominant syndrome that can cause microcephaly, facial/hand abnormalities, mild neurodevelopmental delay and others.
View Article and Find Full Text PDFFirst Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature.
Mol Syndromol
December 2022
Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
Introduction: Feingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and intellectual disability. Until now, 22 patients have been reported in the literature. FGLDS2 is caused by a germline heterozygous deletion of 13q resulting in haploinsufficiency of the gene.
View Article and Find Full Text PDFMycn regulates intestinal development through ribosomal biogenesis in a zebrafish model of Feingold syndrome 1.
PLoS Biol
November 2022
Institute of Genetics and Department of Human Genetics, Zhejiang University School of Medicine, Hangzhou, China.
Feingold syndrome type 1, caused by loss-of-function of MYCN, is characterized by varied phenotypes including esophageal and duodenal atresia. However, no adequate model exists for studying the syndrome's pathological or molecular mechanisms, nor is there a treatment strategy. Here, we developed a zebrafish Feingold syndrome type 1 model with nonfunctional mycn, which had severe intestinal atresia.
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