Heterotaxia syndrome and autosomal dominant inheritance

S. Alonso, M. E. Pierpont, W. Radtke, J. Martinez, S. C. Chen, J. W. Grant, I. Dahnert, S. Taviaux, M. C. Romey, J. Demaille, P. Bouvagnet

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54 Scopus citations

Abstract

Previous familial cases of recurrent heterotaxia have suggested an autosomal recessive or exceptionally X-linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of heterotaxia. The other two families have one member with heterotaxia and at least one other affected member with an 'isolated' heart malformation, which could be considered as a mild form of heterotaxia. In five families, the disorder is transmitted through two or three generations. In one family, the patients are of the same generation but are linked to each other by obligate carriers. We suggest a rule to classify these families with heart malformations, according to the etiologic factor involved (rule of precocity). This rule might be useful to other disruptions of morphogenetic processes.

Original languageEnglish (US)
Pages (from-to)12-15
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume56
Issue number1
DOIs
StatePublished - 1995

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