Mustafa Doğan1, Recep Eröz2, Emrah Öztürk3. 1. Department of Medical Genetics, Malatya Turgut Özal University Medical Faculty, Malatya, Turkey. 2. Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey. 3. Department of Ophthalmology, Malatya Training and Research Hospital, Malatya, Turkey.
Abstract
Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.
Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.
Authors: Lorenzo Nanetti; Daniela Di Bella; Stefania Magri; Mario Fichera; Elisa Sarto; Anna Castaldo; Alessia Mongelli; Silvia Baratta; Silvia Fenu; Marco Moscatelli; Maria Teresa Bonati; Andrea Martinuzzi; Caterina Mariotti; Franco Taroni Journal: Front Neurol Date: 2022-01-06 Impact factor: 4.003
Authors: Pavel A Melentev; Eduard G Sharapenkov; Nina V Surina; Ekaterina A Ivanova; Elena V Ryabova; Svetlana V Sarantseva Journal: Insects Date: 2021-12-22 Impact factor: 2.769