A novel missense mutation in the Mediator of RNA Polymerase II Transcription Subunit 12 gene, MED12, has been found in the original family with Lujan syndrome and in a second family (K9359) that was initially considered to have Opitz-Kaveggia (FG) syndrome. A different missense mutation in MED12 has been previously reported in the original family with Opitz-Kaveggia syndrome and in five other families with compatible clinical findings. Neither sequence alteration has been found in over 1,400 control X chromosomes. Lujan (Lujan-Fryns) syndrome is characterized by tall stature with asthenic habitus, macrocephaly, tall narrow face, maxillary hypoplasia, high narrow palate with dental crowding, small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild to moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum. Although Lujan syndrome has not been previously considered to be in the differential diagnosis of Opitz-Kaveggia syndrome, there are some overlapping clinical manifestations, specifically dysgenesis of the corpus callosum, macrocephaly/relative macrocephaly, tall forehead, hypotonia, mental retardation and behavioral disturbances. Thus it appears that these two XLMR syndromes are allelic, having mutations in the MED12 gene.
- FG syndrome
- Lujan syndrome
- Lujan-Fryns syndrome
- X-linked mental retardation with Marfanoid habitus
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