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De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Apr; Vol. 176 (4), pp. 969-972. Date of Electronic Publication: 2018 Feb 15. - Publication Year :
- 2018
-
Abstract
- Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis. Gross neurologic functioning appears to be within normal limits. In both individuals a de novo variant in MYRF was identified using exome sequencing. Neither variant is found in gnomAD. Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies.<br /> (© 2018 Wiley Periodicals, Inc.)
- Subjects :
- Alleles
Child, Preschool
Gene Frequency
Genotype
Humans
Male
Mutation
Phenotype
Syndrome
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Heart Defects, Congenital diagnosis
Heart Defects, Congenital genetics
Membrane Proteins genetics
Transcription Factors genetics
Urogenital Abnormalities diagnosis
Urogenital Abnormalities genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 176
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 29446546
- Full Text :
- https://doi.org/10.1002/ajmg.a.38620