A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene.
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.
Department of clinical genetics VU University Medical Center Amsterdam The Netherlands.
Lara
L
Stokman
Department of pulmonary diseases VU University Medical Center Amsterdam The Netherlands.
Esther J
EJ
Nossent
Department of pathology VU University Medical Center Amsterdam The Netherlands.
Katrien
K
Grunberg
Department of radiology VU University Medical Center Amsterdam The Netherlands.
Lilian
L
Meijboom
Department of Molecular Biology and Genetics Acibadem University Istanbul Turkey.
Mustafa C
MC
Yakicier
Department of clinical genetics VU University Medical Center Amsterdam The Netherlands.
Els
E
Voorhoeve
Department of clinical genetics VU University Medical Center Amsterdam The Netherlands.
Arjan C
AC
Houweling
Homozygous whole gene deletion; SLC34A2; SNP array; pulmonary alveolar microlithiasis