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Journal of Pediatric Neurology 2013; 11(01): 067-070
DOI: 10.3233/JPN-120598
Georg Thieme Verlag KG Stuttgart – New York

Alpha-thalassemia mental retardation syndrome: A case report of two affected siblings

Authors

  • Zarina A. Latiff

    a   Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia

  • Sharifah Azween S. Omar

    a   Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia

  • Doris Lau

    a   Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia

  • Sau Wei Wong

    a   Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia

  • Lai Choo Ong

    a   Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia

  • Dayang A. Aziz

    b   Department of Surgery, National University of Malaysia, Kuala Lumpur, Malaysia

  • Sharifah N. Akmal

    c   Department of Pathology, National University of Malaysia, Kuala Lumpur, Malaysia

Subject Editor:
Further Information

Publication History

01 August 2012

30 March 2011

Publication Date:
30 July 2015 (online)

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Abstract

Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.

Keywords

Alpha-thalassemia mental retardation syndrome (ATR-X) gene - X-linked mental retardation