A compound heterozygosity of a large deletion and a missense variant in PNPLA6 causing Boucher-Neuhauser syndrome in elderly patients presenting with chronic progressive ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism

被引：0

作者：

Kalkoljuck, Pannaporn ^{[1
]}

Iemwimangsa, Nareenart ^{[2
]}

Klumsathian, Sommon ^{[2
]}

Panthan, Bhakbhoom ^{[2
]}

Termsarasab, Pichet ^{[3
]}

Sriphrapradang, Chutintorn ^{[3
]}

Sujirakul, Tharikarn ^{[4
]}

Chareonsirisuthigul, Takol ^{[2
,5
]}

Trachoo, Objoon ^{[2
,3
]}

机构：

[1] Mahidol Univ, Ramathibodi Hosp, Fac Med, Med Undergrad Program, Bangkok, Thailand

[2] Mahidol Univ, Ramathibodi Hosp, Fac Med, Ctr Med Genom, Bangkok, Thailand

[3] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Med, Bangkok, Thailand

[4] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Ophthalmol, Bangkok, Thailand

[5] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pathol, Bangkok, Thailand

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P12.046.C

引用

页码：540 / 541

页数：2

共 6 条

[1] Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations
Synofzik, Matthis
Kernstock, Christoph
Haack, Tobias B.
Schoels, Ludger
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2015, 86 (05): : 580 - 581
[2] A NEW FAMILY WITH CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM (BOUCHER-NEUHAUSER SYNDROME)
BARONCINI, A
FRANCO, N
FORABOSCO, A
CLINICAL GENETICS, 1991, 39 (04) : 274 - 277
[3] Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
Dogan, Mustafa
Eroz, Recep
Ozturk, Emrah
OPHTHALMIC GENETICS, 2021, 42 (03) : 276 - 282
[4] Progressive cerebellar ataxia associated with dystonia, hypogonadotrophic hypogonadism and chorioretinal dystrophy: A sporadic case of Boucher-Neuhauser syndrome or a new variant?
Ling, H.
Unnwongse, K.
Bhidayasiri, R.
MOVEMENT DISORDERS, 2008, 23 (01) : S155 - S155
[5] Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia
Deik, A.
Johannes, B.
Rucker, J. C.
Sanchez, E.
Brodie, S. E.
Deegan, E.
Landy, K.
Kajiwara, Y.
Scelsa, S.
Saunders-Pullman, R.
Paisan-Ruiz, C.
JOURNAL OF NEUROLOGY, 2014, 261 (12) : 2411 - 2423
[6] Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
Liampas A.
Nicolaou P.
Votsi C.
Georghiou A.
Christodoulou K.
Tanteles G.A.
Pantzaris M.
Molecular Biology Reports, 2024, 51 (1)

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