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.
Le Brun Keris
Yann
Y
Department of Gynecology and Obstetrics, General Hospital, BP 1125, 73011 Chambery cedex, France.
Jouk
Pierre-Simon
PS
Saada-Sebag
Géraldine
G
Roux
Jean-Jacques
JJ
Mattei
Bertrand
B
Bagait
Laure
L
Paoloni-Giacobino
Ariane
A
Grandchamp
Bernard
B
Soufir
Nadem
N
Lespinasse
James
J
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