Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.
Tunis Med
; 99(2): 302-305, 2021 Feb.
Article
em En
| MEDLINE
| ID: mdl-33899203
ABSTRACT
PURPOSE:
We 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.METHODS:
We 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.RESULTS:
Fundus 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.CONCLUSIONS:
Several 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Turner
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Distrofias de Cones e Bastonetes
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
Tunis Med
Ano de publicação:
2021
Tipo de documento:
Article
País de publicação:
TN
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TUNEZ
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TUNISIA
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TUNÍSIA