Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene

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Tarih

2021

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Taylor & Francis Inc

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Boucher-Neuhauser syndrome, PNPLA6 gene, chorioretinal dystrophy

Kaynak

Ophthalmic Genetics

WoS Q Değeri

Q4

Scopus Q Değeri

Cilt

42

Sayı

3

Künye