Autosomal dominant transmission of familial laterality defects

✍ Scribed by Casey, B.; Cuneo, B. F.; Vitali, C.; van Hecke, H.; Barrish, J.; Hicks, J.; Ballabio, A.; Hoo, J. J.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 18 KB
• Volume: 61
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960202)61:4<325::aid-ajmg5>3.0.co;2-t

✦ Synopsis

Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development. Most familial cases are thought to be autosomal recessive. We have identified a family in which 4 individuals from 3 generations manifest laterality defects. Twenty-five family members have been examined. Two have complete reversal of normal laterality (situs inversus) while 2 others have asplenia, midline liver, and complex cardiac malformations (situs ambiguus). Two additional obligate gene carriers are anatomically normal (situs solitus). Male-to-male transmission confirms autoso-ma1 inheritance. Identification of this family establishes an autosomal dominant form of laterality defect, suggesting that a portion of sporadic cases may be new-mutation dominant or unrecognized familial cases. The finding of all forms of laterality (solitus, ambiguus, and inversus) among obligate disease gene carriers within a single family may be relevant to genetic evaluation and counseling in apparently isolated patients with laterality disturbance.