TY - JOUR
T1 - Heterotaxia syndrome and autosomal dominant inheritance
AU - Alonso, S.
AU - Pierpont, M. E.
AU - Radtke, W.
AU - Martinez, J.
AU - Chen, S. C.
AU - Grant, J. W.
AU - Dahnert, I.
AU - Taviaux, S.
AU - Romey, M. C.
AU - Demaille, J.
AU - Bouvagnet, P.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320560105
DO - 10.1002/ajmg.1320560105
M3 - Article
C2 - 7747776
AN - SCOPUS:0028895803
VL - 56
SP - 12
EP - 15
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -