TY - JOUR
T1 - Otopalatodigital syndrome type 2 in a male infant
T2 - A case report with a novel sequence variation
AU - Sankararaman, Senthilkumar
AU - Kurepa, Dalibor
AU - Shen, Yiping
AU - Kakkilaya, Venkatakrishna
AU - Ursin, Sussone
AU - Chen, Harold
PY - 2013
Y1 - 2013
N2 - We report a male infant with typical clinical, pathological and radiological features of otopalatodigital syndrome type 2 (OPD 2) with a novel sequence variation in the FLNA gene. His clinical manifestations include typical craniofacial features, cleft palate, hearing impairment, omphalocele, bowing of the long bones, absent fibulae and digital abnormalities consistent with OPD 2. Two hemizygous sequence variations in the FLNA gene were identified. The variation c.5290G > A/p.Ala1764Thr has been previously reported in a patient with periventricular nodular heterotopia, but subsequently it has been reported as a polymorphism. The other variation c.613T > C/p.Cys205Arg detected in the proband has not been previously reported and our analysis indicates that this is a novel disease-causing mutation for OPD2.
AB - We report a male infant with typical clinical, pathological and radiological features of otopalatodigital syndrome type 2 (OPD 2) with a novel sequence variation in the FLNA gene. His clinical manifestations include typical craniofacial features, cleft palate, hearing impairment, omphalocele, bowing of the long bones, absent fibulae and digital abnormalities consistent with OPD 2. Two hemizygous sequence variations in the FLNA gene were identified. The variation c.5290G > A/p.Ala1764Thr has been previously reported in a patient with periventricular nodular heterotopia, but subsequently it has been reported as a polymorphism. The other variation c.613T > C/p.Cys205Arg detected in the proband has not been previously reported and our analysis indicates that this is a novel disease-causing mutation for OPD2.
KW - FLNA gene
KW - Filamin A
KW - Otopalatodigital syndrome type 2
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U2 - 10.3233/PGE-13045
DO - 10.3233/PGE-13045
M3 - Article
C2 - 27625837
AN - SCOPUS:85013585220
SN - 2146-4596
VL - 2
SP - 33
EP - 36
JO - Journal of Pediatric Genetics
JF - Journal of Pediatric Genetics
IS - 1
ER -