A Novel X-linked Recessive Mental Retardation Syndrome Comprising Macrocephaly and Ciliary Dysfunction is Allelic to Oral-facial-digital Type I Syndrome

Overview

Journal Hum Genet

Specialty Genetics

Date 2006 Jun 20

PMID 16783569

Citations 71

Authors

Bartlomiej Budny

Wei Chen

Heymut Omran

Manfred Fliegauf

Andreas Tzschach

Marzena Wisniewska

Lars R Jensen

Martine Raynaud

Sarah A Shoichet

Magda Badura

Steffen Lenzner

Anna Latos-Bielenska

Hans-Hilger Ropers

Affiliations

Soon will be listed here.

Abstract

We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral-facial-digital type 1 syndrome (OFD1S) that is characterized by X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier females of our family were clinically inconspicuous, and the affected males suffered from severe mental retardation, recurrent respiratory tract infections and macrocephaly. All but one of the affected males died from respiratory problems in infancy; and impaired ciliary motility was confirmed in the index patient by high-speed video microscopy examination of nasal epithelium. This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms.

Citing Articles

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