Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
Clin Genet
; 103(4): 472-477, 2023 04.
Article
em En
| MEDLINE
| ID: mdl-36507858
ABSTRACT
ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. On comprehensive clinical examinations using molecular methods, we identified a Chinese patient from a consanguineous family carrying a novel homozygous variant c.22_23delAG (p.S8Lfs*10) in ARL2BP, presenting with retinitis pigmentosa (RP), situs inversus totalis, and oligozoospermia. Situs inversus and male infertility have never been reported in the same patient with ARL2BP variants; therefore, this a novel ARL2BP-associated phenotypic triad of RP, situs inversus, and male infertility. Moreover, this patient likely had olfactory dysfunction susceptibility and presented with anosmia. We found reduced patient-derived fibroblast proliferation and ciliary length. Our findings expand the genotypic spectrum and reveal abnormal cell proliferation and ciliogenesis in ARL2BP-associated patients.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Situs Inversus
/
Fatores de Transcrição
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Retinose Pigmentar
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Ciliopatias
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Infertilidade Masculina
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
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Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article