Autosomal recessive lateralization and midline defects: blastogenesis recessive 1.
In this report, we present 2 sibships in which midline and lateralization anomalies are demonstrated. Because midline and lateralization processes are early embryological events, we suggest calling this sequence Blastogenesis Recessive 1 (BGR1). Since connexin 43 gene mutations were demonstrated in some polyasplenia patients and according to connexin 43 temporospatial tissue expression, we hypothesize that this gene could bear mutations responsible for the anomalies reported in these two sibships.
Debrus
S
S
CRBM, CNRS UPR 9008, Montpellier, France.
Sauer
U
U
Gilgenkrantz
S
S
Jost
W
W
Jesberger
H J
HJ
Bouvagnet
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000028:Abortion, Induced; D001755:Blastocyst / Q000502:physiology*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005808:Genes, Recessive; D005836:Genitalia, Female / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008168:Lung / Q000002:abnormalities / Q000473:pathology; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications; D011261:Pregnancy Trimester, First