Dogan, MustafaEroz, RecepOzturk, Emrah2021-12-012021-12-0120211381-68101744-5094https://doi.org/10.1080/13816810.2021.1894461https://hdl.handle.net/20.500.12684/10831Purpose: 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.en10.1080/13816810.2021.1894461info:eu-repo/semantics/closedAccessBoucher-Neuhauser syndromePNPLA6 genechorioretinal dystrophyArticle423276282336504662-s2.0-85106573363WOS:000624749100001Q3Q4