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Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1
Author(s) -
Shimojima Keiko,
Shimada Shino,
Sugawara Midori,
Yoshikawa Naomi,
Niijima Shinichi,
Urao Masahiko,
Yamamoto Toshiyuki
Publication year - 2013
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2012.00384.x
Subject(s) - variation (astronomy) , phenotype , genetic counseling , genetics , medicine , biology , gene , physics , astrophysics
Oral‐facial‐digital syndrome type 1 ( OFD 1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD 1, where two female siblings and their mother shared the same mutation of the responsible gene ( OFD 1 ) c.1193_1196del AATC . Phenotypic variability was observed among them; the mother showed minimal features of OFD 1, whereas her two daughters showed partial features and the full spectrum of OFD 1, respectively. Thus, OFD 1 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 OFD 1 in this family. Patients with OFD 1 show phenotypic variability, which poses challenges for genetic counseling.