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1.
Am J Med Genet A ; 188(6): 1777-1791, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35253369

RESUMEN

Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagnostic testing and the clinical utility of a diagnosis for patients with rare diseases on these relatively isolated, resource-limited islands. A total of 331 patients that were referred to the clinical geneticist between November 2011 and November 2019 and had genetic testing were included in this study. A total of 508 genetic tests were performed on these patients. Microarray, next-generation sequencing gene panels, and single-gene analyses were the most frequently performed genetic tests. A molecularly confirmed diagnosis was established in 33% of patients (n = 108). Most diagnosed patients had single nucleotide variants or small insertions and/or deletions (48%) or copy number variants (34%). Molecular diagnostic yield was highest in patients referred for seizures and developmental delay/intellectual disability. The genetic diagnosis had an impact on clinical management in 52% of patients. Referrals to other health professionals and changes in therapy were the most frequently reported clinical consequences. In conclusion, despite limited financial resources, our genetics service resulted in a reasonably high molecular diagnostic yield. Even in this resource-limited setting, a genetic diagnosis had an impact on clinical management for the majority of patients. Our approach with a visiting clinical geneticist may be an example for others who are developing genetic services in similar settings.


Asunto(s)
Variaciones en el Número de Copia de ADN , Discapacidad Intelectual , Región del Caribe/epidemiología , Niño , Pruebas Genéticas/métodos , Humanos , Discapacidad Intelectual/genética , Estudios Retrospectivos
2.
Clin Dysmorphol ; 28(2): 57-62, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30614825

RESUMEN

Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper cells, these patients are prone to infections with uncommon pathogens as illustrated by this case.


Asunto(s)
Exostosis Múltiple Hereditaria/fisiopatología , Subunidad alfa del Receptor del Factor Inhibidor de Leucemia/genética , Osteocondrodisplasias/fisiopatología , Anomalías Múltiples/genética , Adulto , Familia , Femenino , Humanos , Recién Nacido , Janus Quinasa 3/fisiología , Quinasas Janus/fisiología , Subunidad alfa del Receptor del Factor Inhibidor de Leucemia/fisiología , Masculino , Mutación , Linaje , Factor de Transcripción STAT3/fisiología , Hermanos , Síndrome
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