Key result
A homozygous premature stop mutation in MYBPC1 was identified via whole exome sequencing as the cause of autosomal recessive lethal congenital contractural syndrome in 2 affected individuals.
Population
Two affected individuals from different Bedouin tribes with Autosomal recessive lethal congenital…
Design
Case_series
Authors
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May inform genetic counseling in lethal congenital contractures; leaves open validation of MYBPC1 causality in larger cohorts.
Observational (n=2)
A recessive mutation abrogating all functional domains in MYBPC1 leads to lethal congenital contractural syndrome (LCCS).
Markus et al. (2012) conducted an observational in Autosomal recessive lethal congenital contractural syndrome (LCCS) (n=2). Whole exome sequencing was evaluated on Identification of the molecular basis of LCCS. A homozygous premature stop mutation in MYBPC1 was identified via whole exome sequencing as the cause of autosomal recessive lethal congenital contractural syndrome in 2 affected individuals.
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