A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

Lara Stokman; Esther J Nossent; Katrien Grunberg; Lilian Meijboom; Mustafa C Yakicier; Els Voorhoeve; Arjan C Houweling

doi:10.1002/ccr3.532

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

Clin Case Rep. 2016 Mar 11;4(4):412-5. doi: 10.1002/ccr3.532. eCollection 2016 Apr.

Authors

Lara Stokman¹, Esther J Nossent², Katrien Grunberg³, Lilian Meijboom⁴, Mustafa C Yakicier⁵, Els Voorhoeve¹, Arjan C Houweling¹

Affiliations

¹ Department of clinical genetics VU University Medical Center Amsterdam The Netherlands.
² Department of pulmonary diseases VU University Medical Center Amsterdam The Netherlands.
³ Department of pathology VU University Medical Center Amsterdam The Netherlands.
⁴ Department of radiology VU University Medical Center Amsterdam The Netherlands.
⁵ Department of Molecular Biology and Genetics Acibadem University Istanbul Turkey.

Abstract

With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.

Keywords: Homozygous whole gene deletion; SLC34A2; SNP array; pulmonary alveolar microlithiasis.

Publication types

Case Reports