Disease relevance of JMS

• These data provide evidence for the genetic distinction between Juberg-Marsidi syndrome and several other X-linked mental retardation syndromes that have hypogonadism and hypogenitalism and that previously [1].
• The XNP/ATR-X gene is involved in several X-linked mental retardation phenotypes: the ATR-X syndrome, the Juberg-Marsidi syndrome, and some severe mental retardation phenotypes without alpha-thalassemia [2].
• However, this does not exclude the possibility that more restricted anterior induction defects may occur in some X-linked microcephalies such as Juberg-Marsidi syndrome resulting in prolonged survival [3].
• Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome [4]?

Psychiatry related information on JMS

• Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism [1].

High impact information on JMS

• XNP mutation in a large family with Juberg-Marsidi syndrome [5].
• The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21) [1].
• There were no significant differences in the frequencies of DRB1 alleles and genotypes between 56 patients with JMS and 234 patients with MS with age at onset > or =16 years [6].
• Two of these syndromes (the Juberg-Marsidi syndrome and the alpha-thalessemia mental retardation syndrome) have been recently linked, with high lod scores, to polymorphic probes previously assigned to Xq13 [7].

References