Department of Medical Genetics, Malatya Turgut Özal University Medical Faculty, Malatya, Turkey.
Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey.
Ophthalmic Genet. 2021 Jun;42(3):276-282. doi: 10.1080/13816810.2021.1894461. Epub 2021 Mar 2.
: 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 gene.: 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.: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the 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.: 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.
: 本研究旨在提高对布谢尔-纽豪瑟综合征（BNHS）的认识，该综合征是由于 基因的双等位基因致病性变异引起的罕见表型。：详细记录了家族史和临床数据。进行了外显子组全测序，并通过桑格测序对家系进行共分离分析。还对 28 名来自文献的分子确诊的 BNHS 患者进行了回顾性评估。：我们在 基因中发现了一个错义纯合变异（c.3524C>G (p.Ser1175Cys)），该变异解释了患者的表型，神经学、眼科、内分泌和遗传学评估确立了 BNHS 的诊断。还介绍了来自文献的 28 名分子确诊的 BNHS 患者的症状、种族、临床和遗传发现。：我们介绍了一个土耳其 BNHS 家族的主要发现，并详细介绍了迄今为止在文献中分子确诊为 BNHS 的患者的临床和遗传特征。
