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. 2002 Jul 1;110(3):243-7.
doi: 10.1002/ajmg.10446.

Expanding phenotype of XNP mutations: mild to moderate mental retardation

Helger G Yntema  1 , Francis A Poppelaars, Esther Derksen, Astrid R Oudakker, Tanja van Roosmalen, Anja Jacobs, Hanneke Obbema, Han G Brunner, Ben C J Hamel, Hans van Bokhoven
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Expanding phenotype of XNP mutations: mild to moderate mental retardation

Helger G Yntema et al. Am J Med Genet. .

Abstract

Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. In this report, we describe a missense mutation in exon 18 in a family with borderline to moderate MR. Like other disorders associated with an XNP mutation, skewed X-inactivation was found in all carrier females in this family. Only retrospective examination revealed childhood facial hypotonia and HbH inclusions in some of the affected males. These results expand the spectrum of clinical phenotypes known to be due to mutations in the XNP gene, and indicate that XNP mutation analysis should not be restricted to patients with severe MR and characteristic facial features.

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