Absence Of Mutations In Pax6 Gene In Three Cases Of Morning Glory Syndrome Associated With Isolated Growth Hormone Deficiency.

dc.creatorGuerra-Junior, Gil
dc.creatorSpinola-Castro, Angela Maria
dc.creatorSiviero-Miachon, Adriana A
dc.creatorNogueira, Roberto Gomes
dc.creatorLemos-Marini, Sofia Helena V
dc.creatorD'Souza-Li, Lilia Freire Rodrigues
dc.creatorSilva, Priscila Cristina da
dc.creatorFrança, Emerson Salvador S
dc.creatorSoardi, Fernanda Caroline
dc.creatorMello, Maricilda Palandi de
dc.date2008-Nov
dc.date2015-11-27T13:13:26Z
dc.date2015-11-27T13:13:26Z
dc.date.accessioned2018-03-29T01:07:57Z
dc.date.available2018-03-29T01:07:57Z
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. v. 52, n. 8, p. 1221-7, 2008-Nov.
dc.identifier1677-9487
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/19169473
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/198091
dc.identifier19169473
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1298324
dc.descriptionMorning 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.
dc.description52
dc.description1221-7
dc.languageeng
dc.relationArquivos Brasileiros De Endocrinologia E Metabologia
dc.relationArq Bras Endocrinol Metabol
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectBase Sequence
dc.subjectChild
dc.subjectEncephalocele
dc.subjectEye Proteins
dc.subjectHeterozygote
dc.subjectHomeodomain Proteins
dc.subjectHuman Growth Hormone
dc.subjectHumans
dc.subjectIntrons
dc.subjectMutation
dc.subjectOptic Disk
dc.subjectOptic Nerve Diseases
dc.subjectPaired Box Transcription Factors
dc.subjectPolymorphism, Genetic
dc.subjectRepressor Proteins
dc.subjectSequence Analysis, Dna
dc.subjectSyndrome
dc.titleAbsence Of Mutations In Pax6 Gene In Three Cases Of Morning Glory Syndrome Associated With Isolated Growth Hormone Deficiency.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución