RESUMO
Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy. Mutation analysis was completed and identified a candidate founder mutation in the BCKDHB gene, specifically c.595_596delAG. Further testing of other Hutterites with MSUD is needed to determine whether additional mutations may exist.
Assuntos
3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida)/genética , Etnicidade , Efeito Fundador , Doença da Urina de Xarope de Bordo/genética , Análise Mutacional de DNA , Humanos , Recém-Nascido , Masculino , Doença da Urina de Xarope de Bordo/diagnóstico , Doença da Urina de Xarope de Bordo/etnologia , LinhagemRESUMO
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive condition having significant clinical overlap with trisomy 18. Though rare in the general population, it is quite common in the Hutterites of the United States and Canada. The carrier frequency in the Hutterite population is estimated to be one in 10, making BCS one of the most commonly inherited genetic diseases in any human group studied to date. We describe two infant patients who were initially thought to have trisomy 18, but for whom chromosome studies were normal. Additionally, we briefly review the historical background of the Anabaptist Hutterite populations in South Dakota, compare the clinical findings in BCS and trisomy 18 and discuss the importance of genetic counseling for couples of Hutterite descent.
Assuntos
Cromossomos Humanos Par 18 , Retardo do Crescimento Fetal/diagnóstico , Transtornos Psicomotores/diagnóstico , Trissomia/diagnóstico , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , ReligiãoRESUMO
We review 3 cases where array comparative genomic hybridization made a difference in the medical management of the patient, ended the diagnostic odyssey, predicted prognosis for the patient, and/or provided closure to the family. Comparative genomic hybridization is a useful tool for testing individuals with clinical examinations suggestive of a genetic syndrome but in which a specific syndrome may be difficult to pinpoint. The cost is similar to that of a standard karyotype but there is a higher yield in children and adults with clinical signs of a genetic syndrome.
Assuntos
Acrocefalossindactilia/diagnóstico , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 2 , Cromossomos Humanos Par 7 , Hibridização Genômica Comparativa , Deleção de Genes , Síndrome de Rett/diagnóstico , Acrocefalossindactilia/genética , Adolescente , Adulto , Pré-Escolar , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 1/genética , Hibridização Genômica Comparativa/métodos , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariótipo , Masculino , Síndrome de Rett/genéticaRESUMO
Fumarase deficiency is a rare autosomal recessive metabolic condition. We report on a sibship with molecularly confirmed fumarase deficiency. Prenatal findings included agenesis of the corpus callosum, ventriculomegaly, and ventriculoseptal defect. The postnatal course was significant for metabolic acidosis ultimately leading to death around 3 weeks of age. Postmortem findings were noted including swollen mitochondria with abnormal cristae on electron microscopy within the liver. Molecular testing revealed a novel whole gene deletion in conjunction with a point mutation. While the point mutation has been previously reported, the detection of a whole gene deletion has not been described to date in an individual with fumarase deficiency.
Assuntos
Deleção de Genes , Erros Inatos do Metabolismo/genética , Hipotonia Muscular/genética , Diagnóstico Pré-Natal , Transtornos Psicomotores/genética , Acidose/genética , Acidose/patologia , Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/patologia , Evolução Fatal , Fumarato Hidratase/deficiência , Fumarato Hidratase/genética , Humanos , Hidrocefalia/genética , Hidrocefalia/patologia , Recém-Nascido , Fígado/patologia , Masculino , Erros Inatos do Metabolismo/patologia , Hipotonia Muscular/patologia , Mutação Puntual , Transtornos Psicomotores/patologiaRESUMO
Obesity risk is amplified in the presence of obese relatives yet does not usually follow classic Mendelian inheritance patterns. A combination of gene mutations, deletions and single nucleotide polymorphisms are all known to contribute to obesity. Most cases are polygenic, the result of multiple genes interacting with a changing environment. Each "obesity gene" only makes a small contribution to phenotype, but collectively, inherited genetic variations play a major role in determining body mass and how the body responds to physical activity and nutrition. While obesity is most commonly associated with polygenic inheritance, there are other instances in which the cause is monogenic or syndromic. Monogenic obesity typically is caused by a single gene mutation with severe obesity as the main symptom. Syndromic obesity, on the other hand, has many characteristics, of which obesity is one symptom.
Assuntos
Obesidade/genética , Síndrome de Bardet-Biedl/genética , Aberrações Cromossômicas , Humanos , Polimorfismo de Nucleotídeo Único/fisiologia , Síndrome de Prader-Willi/genética , Aumento de Peso/genéticaRESUMO
Standard two-dimensional ultrasound has been used to aid prenatal visualization and detection of anomalies for the past 60 years. Three-dimensional ultrasound, introduced in the 1980s, provides the additional capability of examining the in utero environment from a variety of different angles. Use of this technology in conjunction with standard two-dimensional ultrasound can lead to a more thorough evaluation of structural defects and a greater patient understanding of genetic conditions.