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Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.
Ferreira, Leonardo C; Dantas Junior, José H.
Afiliação
  • Ferreira LC; Department of Biochemistry, Federal University of Rio Grande do Norte, Natal, Brazil.
  • Dantas Junior JH; Institute of Tropical Medicine of Rio Grande do Norte, Federal University of Rio Grande do Norte, Natal, Brazil.
Front Genet ; 11: 104, 2020.
Article em En | MEDLINE | ID: mdl-32158469
BACKGROUND: Apert, Pfeiffer, and Crouzon syndromes are autosomal dominant diseases characterized by craniosynostosis. They are paternal age effect disorders. The association between paternal age and Beare-Stevenson syndrome (BSS), a very rare and severe craniosynostosis, is uncertain. Gain-of-function mutations in FGFR2 become progressively enriched in testes as men age and were shown to cause these syndromes. CASE REPORT: Here, we describe a child affected with BSS, whose father was 36 years old and had congenital bilateral absence of the vas deferens (CBAVD). The child was heterozygous for the pathogenic FGFR2 variant c.1124A > G p.Tyr375Cys. By reviewing the literature, we found that BSS fathers are older than BSS mothers (mean age in years: 39 ± 10 vs 30 ± 6, p = 0.006). Male age greater than 34 years and CBAVD are both factors associated with poor spermogram parameters, which may represent an additional selective pressure to sperm carrying FGFR2 gain-of-function mutations. CONCLUSION: These findings are consistent with the hypothesis that BSS is a paternal-origin genetic disorder. Further experimental studies would be needed to confirm this hypothesis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça