Temple et al. (1994) reported 2 unrelated girls with isolated unilateral congenital diaphragmatic hernia. One child had a left posterolateral diaphragmatic hernia and a balanced reciprocal translocation (8;13)(q22.3;q22) inherited from her unaffected mother. The second child had a ... Temple et al. (1994) reported 2 unrelated girls with isolated unilateral congenital diaphragmatic hernia. One child had a left posterolateral diaphragmatic hernia and a balanced reciprocal translocation (8;13)(q22.3;q22) inherited from her unaffected mother. The second child had a right posterolateral diaphragmatic hernia and a de novo balanced reciprocal translocation (8;15)(q22.3;q15). Temple et al. (1994) suggested that 8q22.3 may harbor a gene involved in isolated congenital diaphragmatic hernia.
In a deceased child with diaphragmatic development defects and severe primary pulmonary hypoplasia (see 265430), Ackerman et al. (2005) identified a de novo heterozygous mutation in the ZFPM2 gene (603693.0003). Postmortem analysis showed incomplete lung fissures bilaterally and ... In a deceased child with diaphragmatic development defects and severe primary pulmonary hypoplasia (see 265430), Ackerman et al. (2005) identified a de novo heterozygous mutation in the ZFPM2 gene (603693.0003). Postmortem analysis showed incomplete lung fissures bilaterally and a deep posterior left diaphragmatic eventration. The heart was grossly normal. Ackerman et al. (2005) suggested that mutations in the ZFPM2 gene may result in primary pulmonary and diaphragmatic defects. In 2 of 96 patients with congenital diaphragmatic hernia, Bleyl et al. (2007) identified heterozygosity for novel sequence alterations in exon 7 of the ZFPM2 gene (603693.0004-603693.0005). Due to the lack of parental DNA, Bleyl et al. (2007) were unable to determine whether the changes were de novo.