Entry - %610361 - OROFACIAL CLEFT 9; OFC9 - OMIM

 
ICD+
% 610361

OROFACIAL CLEFT 9; OFC9


Alternative titles; symbols

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 9


Cytogenetic location: 13q33.1-q34     Genomic coordinates (GRCh38): 13:101,100,001-114,364,328


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
13q33.1-q34 Orofacial cleft 9 610361 2
Phenotypic Series
 


▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530.

▼ Mapping

In 2 Indian pedigrees with isolated, nonsyndromic cleft lip with or without cleft palate segregating as an autosomal dominant trait, Radhakrishna et al. (2006) demonstrated linkage to 13q33.1-q34, with a nonparametric linkage score of 5.57 at marker rs1830756. Haplotype analysis with informative crossovers enabled the mapping of a CL/P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. The phenotype was variable, ranging from unilateral to bilateral CL/P. The authors noted that CL/P is very common in patients with trisomy involving all or part of chromosome 13 (Berge et al., 2001).


▼ REFERENCES

  1. Berge, S. J., Plath, H., Van de Vondel, P. T., Appel, T., Niederhagen, B., Von Lindern, J. J., Reich, R. H., Hansmann, M. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet. Gynec. 18: 422-431, 2001. [PubMed: 11844159, related citations] [Full Text]

  2. Radhakrishna, U., Ratnamala, U., Gaines, M., Beiraghi, S., Hutchings, D., Golla, J., Husain, S. A., Gambhir, P. S., Sheth, J. J., Sheth, F. J., Chetan, G. K., Naveed, M., Solanki, J. V., Patel, U. C., Master, D. C., Memon, R., Antonarakis, G. S., Antonarakis, S. E., Nath, S. K. Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. Am. J. Hum. Genet. 79: 580-585, 2006. [PubMed: 16909398, images, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 8/29/2006
Edit History:
carol : 01/12/2011
alopez : 6/21/2007
alopez : 8/29/2006
alopez : 8/29/2006

% 610361

OROFACIAL CLEFT 9; OFC9


Alternative titles; symbols

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 9


ORPHA: 141291, 199302, 199306;   DO: 0080402;  


Cytogenetic location: 13q33.1-q34     Genomic coordinates (GRCh38): 13:101,100,001-114,364,328


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
13q33.1-q34 Orofacial cleft 9 610361 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530.

Mapping

In 2 Indian pedigrees with isolated, nonsyndromic cleft lip with or without cleft palate segregating as an autosomal dominant trait, Radhakrishna et al. (2006) demonstrated linkage to 13q33.1-q34, with a nonparametric linkage score of 5.57 at marker rs1830756. Haplotype analysis with informative crossovers enabled the mapping of a CL/P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. The phenotype was variable, ranging from unilateral to bilateral CL/P. The authors noted that CL/P is very common in patients with trisomy involving all or part of chromosome 13 (Berge et al., 2001).


REFERENCES

  1. Berge, S. J., Plath, H., Van de Vondel, P. T., Appel, T., Niederhagen, B., Von Lindern, J. J., Reich, R. H., Hansmann, M. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet. Gynec. 18: 422-431, 2001. [PubMed: 11844159] [Full Text: https://doi.org/10.1046/j.0960-7692.2001.00575.x]

  2. Radhakrishna, U., Ratnamala, U., Gaines, M., Beiraghi, S., Hutchings, D., Golla, J., Husain, S. A., Gambhir, P. S., Sheth, J. J., Sheth, F. J., Chetan, G. K., Naveed, M., Solanki, J. V., Patel, U. C., Master, D. C., Memon, R., Antonarakis, G. S., Antonarakis, S. E., Nath, S. K. Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. Am. J. Hum. Genet. 79: 580-585, 2006. [PubMed: 16909398] [Full Text: https://doi.org/10.1086/507487]


Creation Date:
Victor A. McKusick : 8/29/2006

Edit History:
carol : 01/12/2011
alopez : 6/21/2007
alopez : 8/29/2006
alopez : 8/29/2006



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® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: May 2, 2024