Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause x-linked mental retardation associated with a marfanoid habitus

Article Abstract:

One frameshift mutation, one splice-site mutation and two missense mutations are identified in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked mental retardation (XLMR). It is found that in three of the families, the mental retardation phenotype is associated with a Marfanoid habitus, however none of the affected individuals meets the Ghent criteria for Marfan syndrome.

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Mutations in the BRWD3 gene cause X- linked mental retardation associated with macrocephaly

Article Abstract:

The article discusses about the new BRWD3 gene, which is implicated in the etiology of XLMR, linked with macrocephaly that can cause disease by altering intracellular signaling pathways affecting cellular proliferation.

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