% 120502

BRANCHIOOTIC SYNDROME 2; BOS2


Alternative titles; symbols

BO SYNDROME 2


Cytogenetic location: 1q31     Genomic coordinates (GRCh38): 1:185,800,001-198,700,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
1q31 Branchiootic syndrome 2 120502 AD 2
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal dominant
HEAD & NECK
Ears
- External ear anomaly
- Preauricular sinuses or cysts
- Congenital hearing loss
Mouth
- Commissural lip pits

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 (602588).


Clinical Features

Marres and Cremers (1991) described a kindred in which 20 of 74 persons in 3 generations had external ear anomalies, preauricular sinuses (or cysts), and commissural lip pits, either in combination or separately. The external ear anomaly was relatively minor and was found in 12 persons. Eleven persons had unilateral or bilateral preauricular sinus. Two individuals without sinus or ear pit had a palpable preauricular cyst. Eight persons had one or more commissural lip pits, which had not been noticed before the study.

Although Marres and Cremers (1991) had considered the disorder in their family to be distinct because of the absence of cervical fistulae and renal abnormalities and the presence of commissural lip pits, the report by Kumar et al. (2000) suggested that commissural lip pits may not be a true component of the syndrome; one individual who had not inherited the chromosome segment responsible in other affected members had only lip pits.

Baker (1966) found commissural lip pits in 12% of Caucasoids and 20% of blacks. Congenital preauricular sinuses occurred more frequently in persons with pits than in those without pits.


Mapping

In a large family with BO syndrome, Kumar et al. (1998) excluded linkage to the 8q13 region previously identified in families with BOS1.

Using a genomewide search strategy in the family reported by Marres and Cremers (1991) and Kumar et al. (1998), Kumar et al. (2000) identified genetic linkage, with a maximum lod score of 4.81 at a recombination fraction of zero, between the BO phenotype and the polymorphic marker D1S2757 in the 1q31 region.


REFERENCES

  1. Baker, B. R. Pits of the lip commissures in Caucasoid males. Oral Surg. 21: 56-60, 1966. [PubMed: 5215910, related citations] [Full Text]

  2. Kumar, S., Deffenbacher, K., Marres, H. A. M., Cremers, C. W. R. J., Kimberling, W. J. Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. Am. J. Hum. Genet. 66: 1715-1720, 2000. [PubMed: 10762556, related citations] [Full Text]

  3. Kumar, S., Marres, H. A. M., Cremers, C. W. R. J., Kimberling, W. J. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am. J. Med. Genet. 76: 395-401, 1998. [PubMed: 9556298, related citations]

  4. Marres, H. A. M., Cremers, C. W. R. J. Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lips pits: an autosomal dominant inherited syndrome. Ann. Otol. Rhinol. Laryng. 100: 928-932, 1991. [PubMed: 1746829, related citations] [Full Text]


Contributors:
Victor A. McKusick - updated : 5/18/2000
Creation Date:
Victor A. McKusick : 1/9/1992
carol : 02/08/2024
carol : 09/20/2019
carol : 08/02/2006
ckniffin : 8/1/2006
mgross : 3/17/2004
alopez : 1/13/2004
alopez : 1/12/2004
tkritzer : 6/20/2003
carol : 7/17/2000
terry : 5/18/2000
mimadm : 6/25/1994
supermim : 3/16/1992
carol : 1/9/1992

% 120502

BRANCHIOOTIC SYNDROME 2; BOS2


Alternative titles; symbols

BO SYNDROME 2


ORPHA: 52429;   DO: 0060232;  


Cytogenetic location: 1q31     Genomic coordinates (GRCh38): 1:185,800,001-198,700,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
1q31 Branchiootic syndrome 2 120502 Autosomal dominant 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of the branchiootic syndrome, see BOS1 (602588).


Clinical Features

Marres and Cremers (1991) described a kindred in which 20 of 74 persons in 3 generations had external ear anomalies, preauricular sinuses (or cysts), and commissural lip pits, either in combination or separately. The external ear anomaly was relatively minor and was found in 12 persons. Eleven persons had unilateral or bilateral preauricular sinus. Two individuals without sinus or ear pit had a palpable preauricular cyst. Eight persons had one or more commissural lip pits, which had not been noticed before the study.

Although Marres and Cremers (1991) had considered the disorder in their family to be distinct because of the absence of cervical fistulae and renal abnormalities and the presence of commissural lip pits, the report by Kumar et al. (2000) suggested that commissural lip pits may not be a true component of the syndrome; one individual who had not inherited the chromosome segment responsible in other affected members had only lip pits.

Baker (1966) found commissural lip pits in 12% of Caucasoids and 20% of blacks. Congenital preauricular sinuses occurred more frequently in persons with pits than in those without pits.


Mapping

In a large family with BO syndrome, Kumar et al. (1998) excluded linkage to the 8q13 region previously identified in families with BOS1.

Using a genomewide search strategy in the family reported by Marres and Cremers (1991) and Kumar et al. (1998), Kumar et al. (2000) identified genetic linkage, with a maximum lod score of 4.81 at a recombination fraction of zero, between the BO phenotype and the polymorphic marker D1S2757 in the 1q31 region.


REFERENCES

  1. Baker, B. R. Pits of the lip commissures in Caucasoid males. Oral Surg. 21: 56-60, 1966. [PubMed: 5215910] [Full Text: https://doi.org/10.1016/0030-4220(66)90014-4]

  2. Kumar, S., Deffenbacher, K., Marres, H. A. M., Cremers, C. W. R. J., Kimberling, W. J. Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. Am. J. Hum. Genet. 66: 1715-1720, 2000. [PubMed: 10762556] [Full Text: https://doi.org/10.1086/302890]

  3. Kumar, S., Marres, H. A. M., Cremers, C. W. R. J., Kimberling, W. J. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am. J. Med. Genet. 76: 395-401, 1998. [PubMed: 9556298]

  4. Marres, H. A. M., Cremers, C. W. R. J. Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lips pits: an autosomal dominant inherited syndrome. Ann. Otol. Rhinol. Laryng. 100: 928-932, 1991. [PubMed: 1746829] [Full Text: https://doi.org/10.1177/000348949110001113]


Contributors:
Victor A. McKusick - updated : 5/18/2000

Creation Date:
Victor A. McKusick : 1/9/1992

Edit History:
carol : 02/08/2024
carol : 09/20/2019
carol : 08/02/2006
ckniffin : 8/1/2006
mgross : 3/17/2004
alopez : 1/13/2004
alopez : 1/12/2004
tkritzer : 6/20/2003
carol : 7/17/2000
terry : 5/18/2000
mimadm : 6/25/1994
supermim : 3/16/1992
carol : 1/9/1992