Evidence map›Paper›PMID 33899203›Full record

ArticleLa Tunisie medicale2021

Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Yousra Falfoul, Imen Habibi, Ahmed Turki, Achraf Ben Yakhlef, Khaled El Matri, Ahmed Chebil, Nibrass Chaker, Daniel Schorderet, Leila El Matri

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PubMed Full text at PMC
In one paragraph

Article in La Tunisie medicale, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Yousra Falfoul
Imen Habibi
Ahmed Turki
Achraf Ben Yakhlef
Khaled El Matri
Ahmed Chebil
Nibrass Chaker
Daniel Schorderet
Leila El Matri

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeWe report a special case of a patient who presented with two rare genetic diseases, Turner syndrome and cone-rod dystrophy (CRD), caused by mutation in the ABCA4 gene.

methodsWe present a case of a 12-year-old female with a progressive visual loss, poor night vision and short stature. We performed a clinical, karyotype of peripheral blood and molecular genetic study. DNA sample from the index patient was subjected to whole exome sequencing. Variants localized in homozygous regions were validated by Sanger sequencing.

resultsFundus examination presented CRD phenotype and the general examination revealed short stature, aortic coarctation and infantile uterus, without visible ovaries on pelvic ultrasound. The karyotype of peripheral blood showed monosomy 45,X. We identified a known homozygous deletion c.[885delC];[885delC] in ABCA4, resulting in a frameshift at the position p.[L296Cfs*4];[ L296Cfs*4] . In addition, mutations in RPGR and ORF15 were excluded.

conclusionsSeveral ocular disorders are known to be associated with Turner syndrome, however, in this case, we hypothesize that CRD is not related to Turner syndrome but may be a manifestation of the lack of a normal X chromosome with ABCA4 mutation.

Indexed as

Cone-Rod DystrophiesTurner SyndromeATP-Binding Cassette TransportersChildElectroretinographyEye ProteinsFemaleHomozygoteHumansMutationPedigreeSequence DeletionABCA4 protein, humanATP-Binding Cassette TransportersEye ProteinsRPGR protein, human

Identifiers

PMID33899203
PMCPMC8715792
OpenAlexW3159464722

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