Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia-Reference-Cited by-同舟云学术

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia

Published:2024-04-29 Issue:1 Volume:51 Page:
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Liampas Andreas,Nicolaou Paschalis,Votsi Christina,Georghiou Anthi,Christodoulou Kyproula,Tanteles George A,Pantzaris Marios

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11033-024-09515-4.pdf

Reference19 articles.

1. Synofzik M, Kernstock C, Haack TB, Schöls L (2015) Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations. J Neurol Neurosurg Psychiatry 86(5):580–581. https://doi.org/10.1136/jnnp-2014-307793

2. Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A et al (2014) PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137(1):69–77. https://doi.org/10.1093/brain/awt326

3. Boucher BJ, Gibberd FB (1969) Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 45:507–510

4. Neuhäuser G, Opitz JM (1975) Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet 7(5):426–434. https://doi.org/10.1111/j.1399-0004.1975.tb00353.x

5. Limber ER, Bresnick GH, Lebovitz RM, Appen RE, Gilbert-Barness EF, Pauli RM (1989) Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome). Am J Med Genet 33(3):409–414. https://doi.org/10.1002/ajmg.1320330325