RESUMO
Genetic counselling (GC) is a process of communicating and educating patients and/or their family members diagnosed with genetic abnormalities. Ideally, GC is offered in-person, physical presence of both the counselee and the counsellor. However, COVID-19 pandemic and new norms of social distancing precluded undertaking GCs. In the wake of this, Genetic Research Centre at ICMR-NIRRH, Mumbai, arranged virtual sessions for GC. Here, we describe our experience of initiating genetic counselling services on virtual platform. This report presents the challenges faced by the genetic counsellors as well as the counselees and suggests a protocol to be followed during tele-genetic counselling. It is based on the retrospective data of 65 cases that were counselled from July 2020 to September 2020 which was the period of lockdown and restriction. Although a few issues emerged during the process of GC, virtual tele-counselling was a preferred option due to social distancing, lack of public transport facilities and COVID-19 specific restrictions. Effective virtual follow ups saved time, energy and finances of providers as well as clients. This article presents providers' experience of the process and some recommendations in Indian scenario.
Assuntos
COVID-19 , SARS-CoV-2 , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Aconselhamento Genético , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2/genéticaRESUMO
Lenz-Majewski syndrome (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals. We report the seventh mutation proven case of LMS and provide a concise review of all known patients till date.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Fácies , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Mutação , Transferases de Grupos Nitrogenados/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Sequência de Bases , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/patologia , Pré-Escolar , Éxons , Expressão Gênica , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/patologia , Masculino , Dados de Sequência Molecular , RadiografiaRESUMO
Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations [premature termination c.441G>A (or p.W147X) and frameshift deletion c.del815G (or p.R272PfsX35)] were identified after complete sequencing of the STAR gene. Prenatal diagnosis was carried out for the family with mutation c.815delG by molecular testing wherein the fetus was found to be homozygous for the mutation. This is the first report of molecular diagnosis and prenatal testing for LCAH from India.
Assuntos
Hiperplasia Suprarrenal Congênita/genética , Transtorno 46,XY do Desenvolvimento Sexual/genética , Mutação , Fosfoproteínas/genética , Hiperplasia Suprarrenal Congênita/diagnóstico , Sequência de Aminoácidos , Sequência de Bases , Códon sem Sentido , Análise Mutacional de DNA , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Feminino , Mutação da Fase de Leitura , Humanos , Índia , Lactente , Recém-Nascido , Cariótipo , Masculino , Mutação de Sentido Incorreto , Gravidez , Diagnóstico Pré-NatalRESUMO
Molecular diagnosis of Fragile X Syndrome (FXS) is carried out by PCR or Southern blot analysis on DNA isolated from leukocytes. These DNA analyses are time consuming and expensive, making it impractical for mass screening programs. We have recently standardized and tested the diagnostic potential of a rapid antibody test on blood smears, based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes in patients with FXS. This test is essentially similar to the one developed at Erasmus University in the Netherlands, with suitable modifications. The diagnostic power of the antibody test is perfect for males, whereas the results are less specific for females. The cutoff value for affected male individuals, expressed as the percentage of FMRP-positive cells, was 20%. In normal individuals, the cutoff value was 85%. The results of the antibody test correlated well with that of Southern blots. Sensitivity of the test was 100% and specificity was 97.5%. This noninvasive test requires one or two drops of blood and is rapid, simple, and cheap, making it an ideal choice for large screening large groups of male mental retardates and neonates for FXS in developing countries such as India.
