ORPHA: 2140; DO: 3827;
Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,300,001-12,800,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 8p23.1 | Diaphragmatic hernia 2 | 222400 | Autosomal recessive | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).
Shimokawa et al. (2005) reported a 37-week-old infant with left diaphragmatic hernia who had a 46,XY,del(8)(p23.1p23.1) karyotype. Surgical repair was unsuccessful, and postmortem examination showed hypoplasia of the left lung and atrial septal defect. Microsatellite analysis showed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion. Shimokawa et al. (2005) stated that this was the fourth report of CDH associated with 8p23.1 deletion (see Pecile et al., 1990; Faivre et al., 1998; Borys and Taxy, 2004). The form of CDH associated with 8p23.1 deletion has been designated here as DIH2.
By array CGH, Slavotinek et al. (2005) screened patients with DIH and additional phenotypic anomalies consistent with Fryns syndrome for cryptic chromosomal aberrations. They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving 15q26.2, and 1 male infant had a deletion in band 8p23.1.
In an investigation of the frequency of chromosome abnormalities and copy number variants in 256 parent-child trios with congenital diaphragmatic hernia, Yu et al. (2012) identified 2 patients with deletions of 8p23.1. Candidate genes involved in the critical 3.8-Mb deleted region included GATA4 (600576) and SOX7 (612202).
Borys, D., Taxy, J. B. Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study. Pediat. Dev. Path. 7: 35-38, 2004. [PubMed: 15255033] [Full Text: https://doi.org/10.1007/s10024-003-2133-7]
Faivre, L., Morichon-Delvallez, N., Viot, G., Narcy, F., Loison, S., Mandelbrot, L., Aubry, M. C., Raclin, V., Edery, P., Munnich, A., Vekemans, M. Prenatal diagnosis of an 8p23.1 deletion in a fetus with diaphragmatic hernia and review of the literature. Prenatal Diag. 18: 1055-1060, 1998. [PubMed: 9826897] [Full Text: https://doi.org/10.1002/(sici)1097-0223(1998100)18:10<1055::aid-pd405>3.0.co;2-i]
Pecile, V., Petroni, M. G., Fertz, M. C., Filippi, G. Deficiency of distal 8p--report of two cases and review of the literature. Clin. Genet. 37: 271-278, 1990. [PubMed: 2190718] [Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb04189.x]
Shimokawa, O., Miyake, N., Yoshimura, T., Sosonkina, N., Harada, N., Mizuguchi, T., Kondoh, S., Kishino, T., Ohta, T., Remco, V., Takashima, T., Kinoshita, A., Yoshiura, K., Niikawa, N., Matsumoto, N. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am. J. Med. Genet. 136A: 49-51, 2005. [PubMed: 15937941] [Full Text: https://doi.org/10.1002/ajmg.a.30778]
Slavotinek, A., Lee, S. S., Davis, R., Shrit, A., Leppig, K. A., Rhim, J., Jasnosz, K., Albertson, D., Pinkel, D. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. (Letter) J. Med. Genet. 42: 730-736, 2005. [PubMed: 16141010] [Full Text: https://doi.org/10.1136/jmg.2004.028787]
Yu, L., Wynn, J., Ma, L., Guha, S., Mychaliska, G. B., Crombleholme, T. M., Azarow, K. S., Lim, F. Y., Chung, D. H., Potoka, D., Warner, B. W., Bucher, B., LeDuc, C. A., Costa, K., Stolar, C., Aspelund, G., Arkovitz, M. S., Chung, W. K. De novo copy number variants are associated with congenital diaphragmatic hernia. J. Med. Genet. 49: 650-659, 2012. [PubMed: 23054247] [Full Text: https://doi.org/10.1136/jmedgenet-2012-101135]