A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

Article Genetics & Heredity

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere et al.

Summary: In this study, genetic diagnosis was achieved in 52.7% of AMC index patients, with the identification of nine newly discovered genes. The primary cause of AMC was determined to be skeletal muscle involvement (40%), with autosomal recessive inheritance being the most frequent mode (66.3%). In sporadic cases born to non-consanguineous parents, de novo dominant autosomal or X linked variants were observed in 50% of cases.

JOURNAL OF MEDICAL GENETICS (2022)

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Review Developmental Biology

The adhesion GPCR Adgrg6 (Gpr126): Insights from the zebrafish model

Sarah Baxendale et al.

Summary: Adhesion GPCRs are important regulators of developmental processes, with Adgrg6 playing critical roles in zebrafish development and potential implications for human diseases. Recent studies have identified a conserved calcium-binding site within the extracellular region of the Adgrg6 receptor, crucial for its function. Homozygous zebrafish adgrg6 mutants have been effective in identifying candidate molecules for influencing signaling activity and rescuing mutant phenotypes, showing promise for future development as small molecule modulators of the Adgrg6 pathway.

GENESIS (2021)

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Article Acoustics