Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient

被引：0

作者：

Sather III, Richard N. ^{[1
]}

Brown, Caroline ^{[1
]}

Montezuma, Sandra R. ^{[1
]}

机构：

[1] Univ Minnesota, Med Sch, Dept Ophthalmol & Visual Neurosci, 420 Delaware St SE, Minneapolis, MN 55455 USA

来源：

OPHTHALMIC GENETICS | 2024年 / 45卷 / 06期

关键词：

PRPS1; PRS-I superactivity; retinal dystrophy; next-generation sequencing; X-linked inheritance pattern; skewed X-inactivation; HEARING-LOSS; MUTATIONS;

D O I：

10.1080/13816810.2024.2388598

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Case Summary: The patient is a 42-year-old female who presented with a de novo missense variant in the PRPS1 gene. Her phenotype includes asymmetric retinal dystrophy with sensory esotropia, congenital sensorineural hearing loss, neuropathy, and severe tremors with recent-onset ataxia. This contributes a new presentation of ophthalmic and neurological findings to the literature.

引用

页码：657 / 662

页数：6

共 6 条

[1] Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
Fiorentino, Alessia
Fujinami, Kaoru
Arno, Gavin
Robson, Anthony G.
Pontikos, Nikolas
Arasanz Armengol, Monica
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Iwata, Takeshi
Parker, Matthew
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Gardner, Jessica C.
Henderson, Robert H.
Cheetham, Michael E.
Webster, Andrew R.
Michaelides, Michel
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HUMAN MUTATION, 2018, 39 (01) : 80 - 91
[2] PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
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NEUROLOGY-GENETICS, 2021, 7 (02)
[3] X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
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[4] Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1
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FRONTIERS IN PEDIATRICS, 2022, 10
[5] Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by IL2RG Gene Variant
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FRONTIERS IN GENETICS, 2022, 13
[6] Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome
AlBakheet, Albandary
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FRONTIERS IN GENETICS, 2023, 13

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