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J Pediatr Genet 2013; 02(01): 033-036
DOI: 10.3233/PGE-13045
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

Senthilkumar Sankararaman
a   Department of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
,
Dalibor Kurepa
a   Department of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
,
Yiping Shen
b   Departments of Pathology and Laboratory Medicine, Harvard Medical School, Boston Children’s Hospital, Waltham, MA, USA
,
Venkatakrishna Kakkilaya
c   Division of Neonatology, Department of Pediatrics, University of South-Western Medical Center, Dallas, TX, USA
,
Sussone Ursin
a   Department of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
,
Harold Chen
a   Department of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
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18. Juli 2012

11. November 2012

Publikationsdatum:
27. Juli 2015 (online)

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Abstract

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.

Keywords

Otopalatodigital syndrome type 2 - FLNA gene - filamin A