The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

O conhecimento sobre temas de Genética e Biologia Molecular, nos últimos anos, vem crescendo de maneira exponencial, demandando constante atualização, principalmente se considerarmos que, ao final do período de graduação, muito desse conhecimento está desatualizado. O Quiz de Genética e Biologia Molecular (GBM) foi proposto como nova ferramenta de ensino para complementar a abordagem dessa temática no ensino de ciências da saúde. Elaborado por alunos dos cursos de Medicina e Sistemas de Informação do UniFOA orientados pelos professores, o Quiz foi aplicado e avaliado por 159 alunos do terceiro período de Medicina. Os resultados mostraram excelente aceitação pelos alunos submetidos à ferramenta, apontando principalmente um aumento de interesse nos temas abordados e a possibilidade de reconhecimento das deficiências específicas de subtemas de cada aluno, facilitando correções no processo de aprendizagem. O Quiz surge como um novo instrumento didático que será atualizado e direcionado para as deficiências encontradas pelos alunos e ofertado de maneira presencial ou a distância

Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids, S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission.The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.

Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants inANAPC1and juvenile cataracts, and type II, with biallelic variants inRECQL4, increased cancer risk and no cataracts. We report on six Brazilian probands and two siblings of Swiss/Portuguese ancestry presenting with severe short stature, widespread poikiloderma and congenital ocular anomalies. Genomic and functional analysis revealed compound heterozygosis for a deep intronic splicing variant in trans with loss of function variants inDNA2, with reduction of the protein levels and impaired DNA double-strand break repair. The intronic variant is shared by all patients, as well as the Portuguese father of the European siblings, indicating a probable founder effect. Biallelic variants inDNA2were previously associated with microcephalic osteodysplastic primordial dwarfism. Although the individuals reported here present a similar growth pattern, the presence of poikiloderma and ocular anomalies is unique. Thus, we have broadened the phenotypical spectrum ofDNA2mutations, incorporating clinical characteristics of RTS. Although a clear genotype–phenotype correlation cannot be definitively established at this moment, we speculate that the residual activity of the splicing variant allele could be responsible for the distinct manifestations ofDNA2-related syndromes.

RESUMOA colestase intra-hepática familiar progressiva (PFIC) é um grupo heterogêneo de doenças raras, de herança autossômica recessiva, que se apresenta com colestase hepatocelular devido a um defeito na secreção biliar, geralmente manifestada na infância. Suas características clínicas comuns são: icterícia na primeira infância, hepatosesplenomegalia, prurido intratável grave e retardo de crescimento. Não se conhece bem a epidemiologia dessas doenças, mas estima-se que a incidência seja de 1:50 mil a 1:100 mil nascimentos. A PFIC acomete igualmente ambos os sexos e tem sido relatada em diversas regiões geográficas. Descrevemos dois casos de irmãos, filhos de pais consanguíneos com a PFIC tipo 1. O presente relato busca ampliar o conhecimento médico dessas manifestações genéticas raras e auxiliar no diagnóstico precoce dos pacientes com a enfermidade. Palavras-chave: colestase intra-hepática; lactente; hereditariedade; icterícia neonatal; prurido. ABSTRACTThe progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare diseases, autosomal recessive, presenting with hepatocellular cholestasis due to a defect in the bile secretion, usually manifested in the childhood. Its common clinical features are: jaundice in infancy, hepatomegaly, splenomegaly, severe intractable pruritus and growth retardation. The epidemiology of these diseases is unknown, but it is estimated that the incidence is 1/50 thousand to 1/100 thousand births. They affect both genders and have been reported in different geographical regions. We describe two cases of siblings, children of consanguineous parents with PFIC type 1. This case report seeks to expand the medical knowledge of these rare genetic manifestations and assist in the early diagnosis of patients with this disease.