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In one unrelated proband ([PMID:36381759]), a heterozygous missense variant, p.Gln61Arg, was identified in LMX1A exon 3 by array comparative genomic hybridization and exome sequencing. The patient exhibited facial paralysis with ocular abduction anomalies, dysphagia (HP:0002015), hypertelorism (HP:0000316), short nose (HP:0003196), and restricted jaw movements. No family segregation data or additional cases have been reported. No functional studies of LMX1A have been performed in Moebius syndrome.
Gene–Disease AssociationLimitedSingle proband, no segregation or replication Genetic EvidenceLimitedOne heterozygous missense variant in one patient ([PMID:36381759]) Functional EvidenceLimitedNo functional data for LMX1A in Moebius syndrome |