Revista de trastornos genéticos e informes genéticos

CGH Array Based Case Report of a Patient Suffering with Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus and Oligozoospermia

Neetu Singh, Dinesh Kumar Sahu, Parth Purwar, Sanjeev Gupta, Anil Kumar Tripathi, Jaya Dixit, Ravi Kant and Devendra Kumar Gupta

CGH Array Based Case Report of a Patient Suffering with Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus and Oligozoospermia

A 35 year old male patient with family history of dental and ocular features, presented with chief complaint of discolored teeth since childhood and inability to see clearly during daytime reported to the O.P.D of Periodontology, King George’s Medical University, Lucknow, Uttar Pradesh. Henceforth, we suspected the presenting medical condition as syndromic and following investigations were carried out to establish the definitive diagnosis of the case so that appropriate management can be rendered to the patient as well as family members. Routine blood investigations, orthopantomogram (OPG), anterior segment and posterior segment examination was carried out. Advanced macular visualization on spectral domain optical coherence tomography (SDOCT) of retina was also performed. Additionally, chest X-ray and ultrasonography of whole abdomen (USG- abdomen) were also performed. To corroborate the phenotypic disorders with genotype, array based Comparative Genomic Hybridization (aCGH) was performed on the patient’s blood. Through Dental (clinical and radiographic), Opthalmic, X-ray/Ultrasound and Laboratory diagnosis diagnosed the patient as a phenotype with co-morbid occurrence of X-linked Hypoplastic Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus with oligozoospermia respectively. Further, through aCGH, the identified Copy Number Variations corroborated with the phenotypic features and were also reported in Decipher Database. Hence, the present case with multiple disorders (affecting multiple organs) suggest multi- factorial etiology involving Decipher Database reported MIR4424, NTRK1, UGT2B15 MSR1 PAK6 MIAT, ARHGAP4, XG and novel MIR1256, TMSB15B, H2BFXP, H2BFWT, H2BFM genes.