Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
Oral-facial-digital syndrome type 1 (OFD1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD1, where two female siblings and their mother shared the same mutation of the responsible gene (OFD1) c.1193_1196delAATC. Phenotypic variability was observed among them; the mother showed minimal features of OFD1, whereas her two daughters showed partial features and the full spectrum of OFD1, respectively. Thus, OFD1 was suspected only after a health check-up during pregnancy of the second patient showing fetal brain anomaly and maternal polycystic kidney. For these reasons, there was a delay in the recognition of OFD1 in this family. Patients with OFD1 show phenotypic variability, which poses challenges for genetic counseling.
Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Keiko
K
Shimojima
Shino
S
Shimada
Midori
M
Sugawara
Naomi
N
Yoshikawa
Shinichi
S
Niijima
Masahiko
M
Urao
Toshiyuki
T
Yamamoto
D000328:Adult; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019066:Facies; D005190:Family; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011506:Proteins / Q000235:genetics; D049951:X Chromosome Inactivation
C115130:OFD1 protein, human; D011506:Proteins
OFD1; X-chromosome inactivation; agenesis of the corpus callosum; oral-facial-digital syndrome; polycystic kidney