Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198091
Type: Artigo de periódico
Title: Absence Of Mutations In Pax6 Gene In Three Cases Of Morning Glory Syndrome Associated With Isolated Growth Hormone Deficiency.
Author: Guerra-Junior, Gil
Spinola-Castro, Angela Maria
Siviero-Miachon, Adriana A
Nogueira, Roberto Gomes
Lemos-Marini, Sofia Helena V
D'Souza-Li, Lilia Freire Rodrigues
Silva, Priscila Cristina da
França, Emerson Salvador S
Soardi, Fernanda Caroline
Mello, Maricilda Palandi de
Abstract: Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.
Subject: Base Sequence
Child
Encephalocele
Eye Proteins
Heterozygote
Homeodomain Proteins
Human Growth Hormone
Humans
Introns
Mutation
Optic Disk
Optic Nerve Diseases
Paired Box Transcription Factors
Polymorphism, Genetic
Repressor Proteins
Sequence Analysis, Dna
Syndrome
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/19169473
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_19169473.pdf166.22 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.