BACKGROUND: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman postulated that the syndrome may be due to a mutation in an X-linked gene or an autosomal gene giving rise to a sex-limited trait, but the definitive pathogenetic mechanism has still not been elucidated. Very little is known about the cognitive and behavioural phenotype of Roifman syndrome and no standardized measures of cognitive abilities have been reported. METHODS: We report the seventh case of a boy with Roifman syndrome and present the first systematic documentation of the cognitive and behavioural phenotype of an individual with the syndrome. RESULTS: In spite of having been reported as appearing intellectually 'able', formal evaluation showed very significant intellectual disability and neuropsychological impairment across cognitive domains. CONCLUSIONS: The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS).
BACKGROUND:Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman postulated that the syndrome may be due to a mutation in an X-linked gene or an autosomal gene giving rise to a sex-limited trait, but the definitive pathogenetic mechanism has still not been elucidated. Very little is known about the cognitive and behavioural phenotype of Roifman syndrome and no standardized measures of cognitive abilities have been reported. METHODS: We report the seventh case of a boy with Roifman syndrome and present the first systematic documentation of the cognitive and behavioural phenotype of an individual with the syndrome. RESULTS: In spite of having been reported as appearing intellectually 'able', formal evaluation showed very significant intellectual disability and neuropsychological impairment across cognitive domains. CONCLUSIONS: The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS).
Authors: Yael Dinur Schejter; Adi Ovadia; Roumiana Alexandrova; Bhooma Thiruvahindrapuram; Sergio L Pereira; David E Manson; Ajoy Vincent; Daniele Merico; Chaim M Roifman Journal: NPJ Genom Med Date: 2017-07-10 Impact factor: 8.617
Authors: Daniele Merico; Maian Roifman; Ulrich Braunschweig; Ryan K C Yuen; Roumiana Alexandrova; Andrea Bates; Brenda Reid; Thomas Nalpathamkalam; Zhuozhi Wang; Bhooma Thiruvahindrapuram; Paul Gray; Alyson Kakakios; Jane Peake; Stephanie Hogarth; David Manson; Raymond Buncic; Sergio L Pereira; Jo-Anne Herbrick; Benjamin J Blencowe; Chaim M Roifman; Stephen W Scherer Journal: Nat Commun Date: 2015-11-02 Impact factor: 14.919