A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome
Journal of Genetic Medicine
;
: 109-112, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-196054
ABSTRACT
Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Congênitas
/
Zigoma
/
Precursores de RNA
/
Coloboma
/
Éxons
/
Códon sem Sentido
/
Orelha
/
Pálpebras
/
Macrostomia
/
Disostose Mandibulofacial
Limite:
Feminino
/
Humanos
/
Lactente
/
Recém-Nascido
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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