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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

Annette Feigenbaum¹, Christine Müller, Christopher Yale

¹Department of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada. asjfeigenbaum@gmail.com

American Journal of Medical Genetics. Part A

|January 17, 2013

Summary

Singleton-Merten syndrome is an autosomal dominant disorder characterized by aortic calcification, dental anomalies, and bone issues. Phenotypic variability is significant, and its cause remains unknown.

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Area of Science:

Genetics
Cardiology
Dentistry

Background:

Singleton-Merten syndrome (SMS) is a rare genetic disorder.
First described in 1973, SMS presents with distinct clinical features.

Purpose of the Study:

To update the clinical phenotype of Singleton-Merten syndrome.
To investigate the inheritance pattern of SMS.
To highlight phenotypic variability within families.

Main Methods:

Detailed clinical evaluation of seven patients.
Family history analysis to determine inheritance patterns.
Review of previously reported cases.

Main Results:

Autosomal dominant inheritance pattern confirmed by familial occurrence and male-to-male transmission.
Core manifestations include severe aortic calcification, dental anomalies (delayed eruption, root issues, bone loss), osteopenia, and acro-osteolysis.
Variable expressivity observed, even within families.

Conclusions:

Singleton-Merten syndrome exhibits autosomal dominant inheritance with significant phenotypic variability.
Key features involve cardiovascular, dental, and skeletal systems.
Etiology and pathogenesis require further investigation.