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

Senthilkumar Sankararaman; Dalibor Kurepa; Yiping Shen; Venkatakrishna Kakkilaya; Sussone Ursin; Harold Chen

doi:10.3233/PGE-13045

Journal of Pediatric Genetics, Table of Contents

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

Authors

Senthilkumar Sankararaman

^aDepartment of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
Dalibor Kurepa

^aDepartment of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
Yiping Shen

^bDepartments of Pathology and Laboratory Medicine, Harvard Medical School, Boston Children’s Hospital, Waltham, MA, USA
Venkatakrishna Kakkilaya

^cDivision of Neonatology, Department of Pediatrics, University of South-Western Medical Center, Dallas, TX, USA
Sussone Ursin

^aDepartment of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA
Harold Chen

^aDepartment of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA

Subject Editor:

Abstract

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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

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