Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy.
Lateralization defect is a heterogeneous condition with different modes of transmission (autosomal recessive, dominant or X-linked). Here, we report on 3 additional families that contribute to the description of phenotypic anomalies of the autosomal dominant type. Phenotypic anomalies include: lateralization defects, cardiac malformations, diaphragmatic hernia, urologic and neurologic anomalies. We suggest calling this sequence BGD1 for blastogenesis dominant 1 because the deleterious effect probably occurs during blastogenesis and involves not only lateralization but other defects as well.
de Meeus
A
A
CRBM, CNRS UPR 9008, Montpellier, France.
Sarda
P
P
Tenconi
R
R
Ferrière
M
M
Bouvagnet
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001755:Blastocyst / Q000502:physiology*; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000002:abnormalities / Q000473:pathology; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008297:Male; D010375:Pedigree; D011296:Prenatal Diagnosis; D014463:Ultrasonography; D014564:Urogenital Abnormalities; D014566:Urogenital System / Q000473:pathology