Entry - #180295 - RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 - OMIM

 
 
# 180295

RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q32.13 Rhabdomyosarcoma, embryonal, 2 180295 3 DICER1 606241

▼ TEXT

A number sign (#) is used with this entry because embryonal rhabdomyosarcoma-2 is caused by heterozygous mutation in the DICER1 gene (606241) on chromosome 14q32.

▼ Clinical Features

Foulkes et al. (2011) identified 3 families of European origin containing 4 individuals with uterine cervix embryonal rhabdomyosarcoma (CERMS) who carried DICER1 mutations. Mutation carriers in these families also manifested multinodular goiter (see 138800), Sertoli-Leydig cell tumors, and Wilms tumor.


▼ Molecular Genetics

In 4 individuals with CERMS from 3 families, Foulkes et al. (2011) identified heterozygous germline mutations in the DICER1 gene (e.g., 606241.0011-606241.0012).


▼ REFERENCES

  1. Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C. S., Charles, A., Frieder, R. P., Dishop, M. K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D., Priest, J. R. Extending the phenotypes associated with DICER1 mutations. Hum. Mutat. 32: 1381-1384, 2011. [PubMed: 21882293, related citations] [Full Text]


Contributors:
Ada Hamosh - updated : 10/14/2013
Creation Date:
Victor A. McKusick : 10/12/1992
Edit History:
carol : 11/14/2017
alopez : 10/14/2013
alopez : 10/10/2013
mgross : 3/18/2004
mimadm : 3/25/1995
carol : 10/12/1992

# 180295

RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q32.13 Rhabdomyosarcoma, embryonal, 2 180295 3 DICER1 606241

TEXT

A number sign (#) is used with this entry because embryonal rhabdomyosarcoma-2 is caused by heterozygous mutation in the DICER1 gene (606241) on chromosome 14q32.

Clinical Features

Foulkes et al. (2011) identified 3 families of European origin containing 4 individuals with uterine cervix embryonal rhabdomyosarcoma (CERMS) who carried DICER1 mutations. Mutation carriers in these families also manifested multinodular goiter (see 138800), Sertoli-Leydig cell tumors, and Wilms tumor.


Molecular Genetics

In 4 individuals with CERMS from 3 families, Foulkes et al. (2011) identified heterozygous germline mutations in the DICER1 gene (e.g., 606241.0011-606241.0012).


REFERENCES

  1. Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C. S., Charles, A., Frieder, R. P., Dishop, M. K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D., Priest, J. R. Extending the phenotypes associated with DICER1 mutations. Hum. Mutat. 32: 1381-1384, 2011. [PubMed: 21882293] [Full Text: https://doi.org/10.1002/humu.21600]


Contributors:
Ada Hamosh - updated : 10/14/2013

Creation Date:
Victor A. McKusick : 10/12/1992

Edit History:
carol : 11/14/2017
alopez : 10/14/2013
alopez : 10/10/2013
mgross : 3/18/2004
mimadm : 3/25/1995
carol : 10/12/1992



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025