Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala.
Garavelli
Livia
L
Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Zanacca
C
C
Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Caselli
G
G
Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Banchini
G
G
Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Dubourg
C
C
Molecular Genetic Laboratory, Rennes, Cedex, France.
David
V
V
Molecular Genetic Laboratory, Rennes, Cedex, France.
Odent
S
S
Molecular Genetic Laboratory, Rennes, Cedex, France.
Gurrieri
F
F
Department of Medical Genetics, "A. Gemelli" School of Medicine, Catholic University Rome, Italy.
Neri
G
G
Department of Medical Genetics, "A. Gemelli" School of Medicine, Catholic University Rome, Italy.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D053823:Hedgehog Proteins; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007180:Incisor / Q000002:abnormalities*; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*
D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators