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1.
Genet Med ; 21(9): 2036-2042, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-30739909

RESUMEN

PURPOSE: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. METHODS: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. RESULTS: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. CONCLUSION: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.


Asunto(s)
Trastorno del Espectro Autista/genética , Discapacidad Intelectual/genética , Trastornos del Neurodesarrollo/genética , Factores de Transcripción/genética , Adolescente , Adulto , Anciano , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/patología , Niño , Preescolar , Exoma/genética , Femenino , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/patología , Masculino , Persona de Mediana Edad , Mutación , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/patología , Secuenciación del Exoma , Adulto Joven
2.
J Genet Couns ; 25(2): 344-58, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26242467

RESUMEN

Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars.


Asunto(s)
Competencia Clínica , Asesoramiento Genético/psicología , Mentores , Autoeficacia , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , North Carolina
3.
Mol Plant Microbe Interact ; 25(10): 1350-60, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22712506

RESUMEN

The oomycete vegetable pathogen Phytophthora capsici has shown remarkable adaptation to fungicides and new hosts. Like other members of this destructive genus, P. capsici has an explosive epidemiology, rapidly producing massive numbers of asexual spores on infected hosts. In addition, P. capsici can remain dormant for years as sexually recombined oospores, making it difficult to produce crops at infested sites, and allowing outcrossing populations to maintain significant genetic variation. Genome sequencing, development of a high-density genetic map, and integrative genomic or genetic characterization of P. capsici field isolates and intercross progeny revealed significant mitotic loss of heterozygosity (LOH) in diverse isolates. LOH was detected in clonally propagated field isolates and sexual progeny, cumulatively affecting >30% of the genome. LOH altered genotypes for more than 11,000 single-nucleotide variant sites and showed a strong association with changes in mating type and pathogenicity. Overall, it appears that LOH may provide a rapid mechanism for fixing alleles and may be an important component of adaptability for P. capsici.


Asunto(s)
Phytophthora/fisiología , Enfermedades de las Plantas/microbiología , Adaptación Fisiológica , Capsicum/microbiología , Mapeo Cromosómico , Cucurbita/microbiología , Regulación de la Expresión Génica , Ligamiento Genético , Genoma , Genotipo , Polimorfismo de Nucleótido Simple
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