Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Am J Med Genet A
; 182(8): 1952-1956, 2020 08.
Article
em En
| MEDLINE
| ID: mdl-32462814
ABSTRACT
Pathogenic variants in components of the minor spliceosome have been associated with several human diseases. Recently, it was reported that biallelic RNPC3 variants lead to severe isolated growth hormone deficiency and pituitary hypoplasia. The RNPC3 gene codes for the U11/U12-65K protein, a component of the minor spliceosome. The minor spliceosome plays a role in the splicing of minor (U12-type) introns, which are present in ~700-800 genes in humans and represent about 0.35% of all introns. Here, we report a second family with biallelic RNPC3 variants in three siblings with a growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. These cases further confirm the association between biallelic RNPC3 variants and severe postnatal growth retardation due to growth hormone deficiency. Furthermore, these cases show that the phenotype of this minor spliceosome-related disease might be broader than previously described.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
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Deficiências do Desenvolvimento
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Proteínas de Ligação a RNA
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Hipotireoidismo Congênito
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Nanismo Hipofisário
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article