Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation. Affected males showed nonprogressive mental retardation ranging from severe to moderate, without seizures, whereas carrier females showed highly variable cognitive capacities, ranging from moderate ... Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation. Affected males showed nonprogressive mental retardation ranging from severe to moderate, without seizures, whereas carrier females showed highly variable cognitive capacities, ranging from moderate mental retardation to normal intelligence.
In the proband of the family reported by Raynaud et al. (2000) as MRX63, Meloni et al. (2002) identified a mutation in the ACSL4 gene (300157.0001). The proband of a second affected family carried a mutation in the ... In the proband of the family reported by Raynaud et al. (2000) as MRX63, Meloni et al. (2002) identified a mutation in the ACSL4 gene (300157.0001). The proband of a second affected family carried a mutation in the 3-prime splice site of intron 10 of the ACSL4 gene (300157.0002). Mental retardation was severe. Six of 6 informative carrier females in family MRX63 showed completely skewed X inactivation in leukocytes. Similarly, 3 of 3 carrier females from 2 different families with ATS-MR (300194) showed completely skewed X inactivation in leukocytes, as did the carrier mother of the proband of the second family. In a family with nonsyndromic X-linked mental retardation (MRX68), Longo et al. (2003) identified a mutation in the ACSL4 gene (300157.0003). Neurocognitive levels ranged from mild to moderate in affected males and were borderline in female carriers. X-inactivation studies in the female carriers showed 100% skewed inactivation in all of them.