Table of Contents - #611263

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#611263
ASPHYXIATING THORACIC DYSTROPHY 2; ATD2

Phenotype Gene Relationships
Location Phenotype Phenotype
MIM number		 Gene/Locus Gene/Locus
MIM number
3q25.33 Asphyxiating thoracic dystrophy 2 611263 IFT80 611177
Phenotypic Series

Clinical Synopsis

TEXT
A number sign (#) is used with this entry because this form of asphyxiating thoracic dystrophy, referred to here as ATD2, is caused by homozygous mutation in the IFT80 gene (611177).

For a general phenotypic description and a discussion of genetic heterogeneity of asphyxiating thoracic dystrophy, also known as Jeune syndrome, see ATD1 (208500).

Clinical Features
Beales et al. (2007) reported 3 consanguineous families with a form of asphyxiating thoracic dystrophy: 2 families were from Pakistan and 1 was from Turkey. The Turkish child had a narrow chest, short femora, and postaxial polydactyly on the hands and feet. One of the Pakistani families had 2 affected children. One child had short femora, narrow chest, and brachydactyly with broad hands and small feet. Skeletal survey showed trident acetabular roofs, mild bowing of the femurs, and small middle phalanges. The second child in this family had short femora, narrow chest, and rhizomelic limb shortening. Neither child had internal organ abnormalities or neonatal respiratory problems. The proband in the second Pakistani family was born stillborn at 20 weeks' gestation due to chorioamnionitis. Autoradiography showed mesomelic shortening of the lower limb with curved femora and trident acetabular roofs. There was no polydactyly, but the hands had short middle phalanges and metacarpals. There were no internal organ abnormalities.

Tuysuz et al. (2009) reported a patient with ATD2 due to the H105Q mutation in the IFT80 gene (611177.0001) who had atlantoaxial instability and spinal cord compression.

Mapping
By genomewide screening, Beales et al. (2007) identified a 17-cM region of homozygosity on chromosome 3q24-q25 that was shared by 3 consanguineous families with asphyxiating thoracic dystrophy. The region was located between markers D3S1555 and D3S1574.

Molecular Genetics
In affected members of 3 consanguineous families with ATD2, Beales et al. (2007) identified 3 different homozygous mutations in the IFT8 gene (611177.0001-611177.0003).

REFERENCES
1. Beales, P. L., Bland, E., Tobin, J. L., Bacchelli, C., Tuysuz, B., Hill, J., Rix, S., Pearson, C. H., Kai, M., Hartley, J., Johnson, C., Irving, M., Elcioglu, N., Winey, M., Tada, M., Scambler, P. J. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genet. 39: 727-729, 2007. [PubMed: 17468754, related citations] [Full Text: Nature Publishing Group, Pubget]

2. Tuysuz, B., Baris, S., Aksoy, F., Madazli, R., Ungur, S., Sever, L. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: evaluation and classification of 13 patients. Am. J. Med. Genet. 149A: 1727-1733, 2009. [PubMed: 19610081, related citations] [Full Text: John Wiley & Sons, Inc., Pubget]

Contributors: Cassandra L. Kniffin - updated : 7/12/2011
Creation Date: Cassandra L. Kniffin : 7/27/2007
Edit History: carol : 12/06/2011
carol : 7/15/2011
ckniffin : 7/12/2011
joanna : 2/15/2011
joanna : 2/15/2011
alopez : 8/6/2007
ckniffin : 7/27/2007