Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
Congenit Anom (Kyoto)
; 53(4): 155-9, 2013 Dec.
Article
de En
| MEDLINE
| ID: mdl-24712474
ABSTRACT
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Syndromes oro-facio-digitaux
/
Phénotype
/
Famille
/
Conseil génétique
Limites:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Newborn
/
Pregnancy
Langue:
En
Journal:
Congenit Anom (Kyoto)
Sujet du journal:
TERATOLOGIA
Année:
2013
Type de document:
Article
Pays d'affiliation:
Japon