RESUMO
Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). Northern blot analysis shows that the 2.1 kb AAAS mRNA is expressed in various tissues with stronger expression in testis and pancreas. We show that human ALADIN is a protein with an apparent molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. Furthermore, biochemical analysis using anti-ALADIN antibody supports the previous finding of the localization of ALADIN in the nuclear membrane. The mutations S544G and S544X show that alteration of S544 residue affects correct targeting of ALADIN to the nuclear membrane.
Assuntos
Humanos , Insuficiência Adrenal/genética , Anticorpos/imunologia , Clonagem Molecular , DNA Complementar/genética , Acalasia Esofágica/genética , Perfilação da Expressão Gênica , Células HeLa , Doenças do Aparelho Lacrimal/genética , Mutagênese Sítio-Dirigida , Proteínas do Tecido Nervoso/análise , Poro Nuclear/química , Complexo de Proteínas Formadoras de Poros Nucleares/análise , RNA Mensageiro/análise , Síndrome , Distribuição TecidualRESUMO
Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.
Assuntos
Adulto , Criança , Displasia Ectodérmica/genética , Feminino , Deformidades do Pé/genética , Doenças do Cabelo/genética , Deformidades da Mão/genética , Humanos , Doenças do Aparelho Lacrimal/genética , Masculino , Síndrome , Anormalidades Dentárias/genéticaRESUMO
Primary adrenal insufficiency is an uncommon disease which has worldwide distribution. The commonest cause in underdeveloped countries is tuberculosis followed by autoimmune destruction of the adrenal gland. We report a case of a 15 years boy who had congenital adrenal insufficiency associated with achalasia of the cardia and deficient tear secretion.
Assuntos
Doença de Addison/genética , Adolescente , Insuficiência Adrenal/diagnóstico , Cromossomos Humanos Par 12 , Acalasia Esofágica/genética , Humanos , Doenças do Aparelho Lacrimal/genética , Masculino , Pigmentação , Síndrome , LínguaRESUMO
We report two siblings with Allgrove's syndrome and extrapyramidal features. Though various neurological abnormalities have been described in this disorder, we report the first patient of Allgrove's syndrome associated with dystonia and chorea.