Prior to becoming a mathematics educator, I was a teacher in Prince George’s County, Maryland. Because of the success I experienced with culturally relevant pedagogy (CRP), it became part of my ...research agenda along with teaching mathematics for social justice (TMfSJ). Databases like 23andme and Ancestry can be used as a context for CRP and TMfSJ. Data related to education, occupation, military service, and voting records can be accessed online. Our ancestors’ experiences can shape our identity and serve as powerful tools for contextualizing mathematics. The stories and counterstories of African Americans can be problematized to show Black lives matter.
A neurodevelopmental syndrome was recently reported in four patients with
heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate ...clinical and genetic knowledge of this syndrome.
We newly identified 17 patients with
variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and analysed the patients' phenotypes.
All variants were novel, distinct and heterozygous. Seven HMG-domain missense and five stop-gain variants were classified as pathogenic or likely pathogenic variant (L/PV) as they precluded SOX4 transcriptional activity in vitro. Five HMG-domain and non-HMG-domain missense variants were classified as of uncertain significance (VUS) due to negative results from functional tests. When known, inheritance was de novo or from a mosaic unaffected or non-mosaic affected parent for patients with L/PV, and from a non-mosaic asymptomatic or affected parent for patients with VUS. All patients had neurodevelopmental, neurological and dysmorphic features, and at least one cardiovascular, ophthalmological, musculoskeletal or other somatic anomaly. Patients with L/PV were overall more affected than patients with VUS. They resembled patients with other neurodevelopmental diseases, including the
related and Coffin-Siris (CSS) syndromes, but lacked the most specific features of CSS.
These findings consolidate evidence of a fairly non-specific neurodevelopmental syndrome due to
haploinsufficiency in neurogenesis and multiple other developmental processes.
Advocating for the use of culturally specific pedagogy to enhance the mathematics instruction of diverse students, this revised second edition offers a wide variety of conceptual and curricular ...resources for teaching mathematics in a way that combats and confronts the forms of oppression that students face today. Addressing stratification based on race, class, and gender, Leonard offers lesson templates that teachers can use with ethnically and culturally diverse students and makes the link between research and practice. Connecting cutting-edge and emerging technologies to culturally specific pedagogy, the second edition features new chapters on mathematics and social justice, robotics, and spatial visualization. Applying a more expansive focus, the new edition discusses current movements such as Black Lives Matter and incorporates examples of rural and tribal students to paint a broader picture of what culturally rich mathematics classrooms actually look like. The text builds on sociocultural theory and research on culture and mathematics cognition to extend the literature and better understand minority students’ goals and learning needs. Including new discussion questions and new examples, lessons, and vignettes of integrating culture in the mathematics classroom, this book employs pedagogical research to field-test new instructional methods for culturally diverse and female students.
The semaphorin protein family is a diverse set of extracellular signaling proteins that perform fundamental roles in the development and operation of numerous biological systems, notably the nervous, ...musculoskeletal, cardiovascular, endocrine, and reproductive systems. Recently, recessive loss‐of‐function (LoF) variants in SEMA3A (semaphorin 3A) have been shown to result in a recognizable syndrome characterized by short stature, skeletal abnormalities, congenital heart defects, and variable additional anomalies. Here, we describe the clinical and molecular characterization of a female patient presenting with skeletal dysplasia, hypogonadotropic hypogonadism (HH), and anosmia who harbors a nonsense variant c.1633C>T (p.Arg555*) and a deletion of exons 15, 16, and 17 in SEMA3A in the compound heterozygous state. These variants were identified through next‐generation sequencing analysis of a panel of 26 genes known to be associated with HH/Kallmann syndrome. Our findings further substantiate the notion that biallelic LoF SEMA3A variants cause a syndromic form of short stature and expand the phenotypic spectrum associated with this condition to include features of Kallmann syndrome.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaCs). We present the case of a neonate with ...cardiogenic shock after cardiac arrest due to profound hyperkalaemia. Genetic testing revealed a novel homozygous variant in
We review diagnostic considerations including the molecular mechanisms of disease, discuss treatment approaches and highlight the possible significance of the diversity of pulmonary ENaCs.
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a ...neurodevelopmental disorder. Here, we report the identification of 19 individuals with heterozygous POU3F3 disruptions, most of which are de novo variants. All individuals had developmental delays and/or intellectual disability and impairments in speech and language skills. Thirteen individuals had characteristic low-set, prominent, and/or cupped ears. Brain abnormalities were observed in seven of eleven MRI reports. POU3F3 is an intronless gene, insensitive to nonsense-mediated decay, and 13 individuals carried protein-truncating variants. All truncating variants that we tested in cellular models led to aberrant subcellular localization of the encoded protein. Luciferase assays demonstrated negative effects of these alleles on transcriptional activation of a reporter with a FOXP2-derived binding motif. In addition to the loss-of-function variants, five individuals had missense variants that clustered at specific positions within the functional domains, and one small in-frame deletion was identified. Two missense variants showed reduced transactivation capacity in our assays, whereas one variant displayed gain-of-function effects, suggesting a distinct pathophysiological mechanism. In bioluminescence resonance energy transfer (BRET) interaction assays, all the truncated POU3F3 versions that we tested had significantly impaired dimerization capacities, whereas all missense variants showed unaffected dimerization with wild-type POU3F3. Taken together, our identification and functional cell-based analyses of pathogenic variants in POU3F3, coupled with a clinical characterization, implicate disruptions of this gene in a characteristic neurodevelopmental disorder.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
I, Too, Am America Imani Goffney; Jacqueline Leonard; Chance Lewis
Journal of urban mathematics education,
06/2021, Volume:
14, Issue:
1
Journal Article
MYH7 variants cause complex congenital heart disease Ritter, Alyssa; Leonard, Jacqueline; Gray, Christopher ...
American journal of medical genetics. Part A,
September 2022, Volume:
188, Issue:
9
Journal Article
Peer reviewed
MYH7, encoding the myosin heavy chain sarcomeric β‐myosin heavy chain, is a common cause of both hypertrophic and dilated cardiomyopathy. Additionally, families with left ventricular noncompaction ...cardiomyopathy (LVNC) and congenital heart disease (CHD), typically septal defects or Ebstein anomaly, have been identified to have heterozygous pathogenic variants in MHY7. One previous case of single ventricle CHD with heart failure due to a MYH7 variant has been identified. Herein, we present a single center's experience of complex CHD due to MYH7 variants. Three probands with a history of CHD, LVNC, and/or arrhythmias were identified to have MYH7 variants through multigene panel testing or exome sequencing. These three patients collectively had 12 affected family members, four with a history of Ebstein anomaly and seven with a history of LVNC. These findings suggest a wider phenotypic spectrum in MYH7‐related CHD than previously understood. Further investigation into the possible role of MYH7 in CHD and mechanism of disease is necessary to fully delineate the phenotypic spectrum of MYH7‐related cardiac disease. MYH7 should be considered for families with multiple individuals with complex CHD in the setting of a family history of LVNC or arrhythmias.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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