Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations. A mutation was subsequently characterized in the aborted fetus, as well as in the mother, sister and grand-mother as an 18bp deletion in exon 15 of the patched homologue 1 (PTCH1) gene. MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk. This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.
Department of Gynecology and Obstetrics, General Hospital, BP 1125, 73011 Chambery cedex, France.
Yann
Y
Le Brun Keris
Pierre-Simon
PS
Jouk
Géraldine
G
Saada-Sebag
Jean-Jacques
JJ
Roux
Bertrand
B
Mattei
Laure
L
Bagait
Ariane
A
Paoloni-Giacobino
Bernard
B
Grandchamp
Nadem
N
Soufir
James
J
Lespinasse
D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005091:Exons; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006801:Humans; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D044102:Receptor, Melanocortin, Type 1; D011956:Receptors, Cell Surface