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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Natural Medical History Study of Patients with STA ...
Natural Medical History Study of Patients with STAC3 Disorder from a Single Center
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This document provides an overview of a natural medical history study conducted on patients with STAC3 disorder, also known as Native American Myopathy. The study aimed to analyze the clinical and molecular features of patients with STAC3 disorder, with a particular focus on the Lumbee founder variant.<br /><br />STAC3 disorder is a rare autosomal recessive condition that was initially observed in patients from the Lumbee tribe of North Carolina but has since been identified in various populations worldwide. The disorder is characterized by a range of features, including congenital myopathy, musculoskeletal and palatal anomalies, short stature, facial dysmorphisms, feeding difficulties, respiratory impairment, and malignant hyperthermia.<br /><br />The study included a total of 22 patients with a clinical or molecular diagnosis of STAC3 disorder, all of whom had Native American ancestry. The average age at molecular diagnosis was 26 months, and all patients were found to be homozygous for the c.851G>C variant, which is the founder variant in the Lumbee population.<br /><br />The study identified several common physical features among the patients, including hypotonia, myopathic facies, ptosis, dysmorphic features, micrognathia, and palatal abnormalities. Other outcomes observed in the study included feeding difficulties, respiratory impairment, receptive or expressive speech delay, delayed motor milestones, hearing loss, and the need for physical, occupational, or speech therapy.<br /><br />The study also highlighted the potential prenatal and neonatal complications associated with STAC3 disorder, such as prenatal drug or alcohol exposure, contractures on ultrasound, and neonatal ICU stays.<br /><br />Overall, this study provides valuable insights into the natural history and clinical features of STAC3 disorder, particularly in individuals with the Lumbee founder variant. The findings can help improve the care and management of patients with this rare disorder and provide guidance to patients, families, and medical providers.
Asset Subtitle
Presenting Author - Kristen Lancaster, MD; Co-Author - Cynthia M. Powell, MD, MS, FACMG;
Meta Tag
Clinical History
Congenital Anomaly
Dysmorphology
Genotype-Phenotype Correlations
Musculoskeletal system
Natural History
Phenotype
Respiratory System
Co-Author
Cynthia M. Powell, MD, MS, FACMG
Presenting Author
Kristen Lancaster, MD
Keywords
natural medical history study
STAC3 disorder
Native American Myopathy
clinical features
molecular features
Lumbee founder variant
autosomal recessive condition
congenital myopathy
musculoskeletal anomalies
palatal anomalies
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