İlknur Erol , Murat Özkale, Atıl Bişgin

Objectives Bohring-Opitz Syndrome(BOS) is a rare congenital genetic disorder characterized by significant craniofacial dysmorphism,feeding difficulties,developmental delay and intellectual disability.Patients usually have characteristic body positioning known as BOS posture which is characterized by flexion of elbows with unlar deviation,flexion of the wrists and metacarpophalangeal joints.The syndrome is considered an autosomal dominant(OD) condition result from usually de novo mutations.However,individuals with BOS inherit the altered gene from their unaffected mother very rarely. Method Herein we present the first case of BOS inherited from the father. Result A 7-year-old boy presented with a complaint of gait disturbance.The patient had been diagnosed as hereditary sensorimotor neuropathy in another center and genetic analysis including karyotype,PMP22 and MFN2(mitofusin)gene mutation were all normal.The patient's motor skills and development were appropriate for his age.He is the second child of healthy non-consanguineous parents.He was born after an uncomplicated pregnancy and an uneventful delivery.Physical examination revealed hypertelorism, hyperlaxity, frontal bossing and low set ear.He had characteristic body position as slouching shoulders,bent elbows and wrists with ulnar deviation.Brain and spinal MRI,electroencephalography,electroneuromyography, echocardiography and WISC-R test were all normal.Whole exome analysis revealed heterozygous ASXL1 gene NM015338.5c.3908A>G(p.K1303R)mutation which was also detected in his father.Since difference in missing penetrans and expressivity is a feature of OD disorder and dysmorphic features consistent with BOS,he was diagnosed as BOS. Conclusion Children with this syndrome can be presented with gait disturbances due to BOS posture similar to our patient.To the best of our knowledge,this case is the first case of BOS inherited from unaffected father in literature. 

Keywords: ASXL1,heterozygous,Bohring-Opitz Syndrome, craniofacial,dysmorphism

İlknur Erol 

Baskent University Faculty of Medicine, 

Adana Dr. Turgut Noyan Application and Research Center 

Turkey

 Murat Özkale 

Baskent University Faculty of Medicine, 

Adana Dr. Turgut Noyan Application and Research Center 

Turkey

 Atıl Bişgin 

Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) and Medical Genetics Department of Medical Faculty Turkey