Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
| Autor: | Mustafa Dogan, Recep Eröz, Emrah Ozturk |
|---|---|
| Přispěvatelé: | [Belirlenecek] |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Cerebellar ataxia chorioretinal dystrophy business.industry PNPLA6 gene 030105 genetics & heredity medicine.disease 03 medical and health sciences Ophthalmology 0302 clinical medicine Endocrinology Hypogonadotropic hypogonadism Internal medicine Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry Medicine Boucher-Neuhauser syndrome Chorioretinal dystrophy Neuhauser syndrome medicine.symptom business Gene Genetics (clinical) Boucher Neuhäuser syndrome |
| Zdroj: | Ophthalmic Genetics. 42:276-282 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2021.1894461 |
| Popis: | 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. WOS:000624749100001 2-s2.0-85106573363 PubMed: 33650466 |
| Databáze: | OpenAIRE |
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