New X linked mental retardation syndrome

IntroductionResearching inherited mental retardation, from a diagnostic and aetiological point of view, is a great challenge. A particular type of mental retardation is the one linked to the X chromosome which is classified under syndromic and non-syndromic types, according to the presence or absence of a specific physical, neurological or metabolic pattern associated with mental retardation.Patients and methodFive generations of a family have been studied with eight males suffering from mental retardation. Six of these males were clinically tested using anthropometric indicators and genetic tests: high resolution karyotypes, fragile X research, linkage and MID1 and PQBP1 gene studies.ResultsAlong with mental retardation, the clinical study showed a pattern of microcephaly, micrognathia, osteoarticular and genital anomalies, short stature and other less frequent malformations. The linkage study mapped the possible causal gene of this mental retardation syndrome and multiple congenital abnormalities in the Xp11.23-q21.32 segment, with a LOD score of 2. As far as we know, a medical profile, similar to the one these patients have, linked to this X segment has not been described.ConclusionsWe suspect that this family has a “new syndrome” of mental retardation and multiple congenital anomalies linked to the X chromosome.