title: SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction.
abstract: We recently diagnosed a patient with pulmonary alveolar microlithiasis (PAM). Because loss-of-function mutations of the SLC34A2 gene are responsible for the development of PAM, we sought to sequence the SLC34A2 gene of the patient and his direct relatives, with a purpose to identify mutations that caused the PAM of the patient as well as the carriers of his family. We found a novel compound heterozygous mutation of the SLC34A2 gene in this patient, which were the mutations of c.1363T > C (p. Y455H) in exon 12 and c.910A > T (p. K304X) in exon 8. Computational prediction of three-dimensional (3D) structures of the mutants revealed that the Y455H mutation resulted in a formation of irregular coils in the trans-membrane domain and the K304X mutation resulted in protein truncation. Our study suggested that sequencing of the SLC34A2 gene together with a computational prediction of the 3D structures of the mutated proteins may be useful in PAM diagnosis and prognosis.
authors.affiliation: Department of Allergy and Clinical Immunology, the Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China.
authors.forename: Huiying
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Allergy and Clinical Immunology, the Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China.
authors.forename: Xinzhen
authors.initials: X
authors.lastname: Yin
authors.affiliation: The Children's Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
authors.forename: Dingwen
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Medicine, VA Palo Alto Health Care System, Stanford University School of Medicine, Stanford, CA, 94305, USA.
authors.forename: Xinguo
authors.initials: X
authors.lastname: Jiang
keywords: Autosomal recessive; Computational prediction; Protein structure; SLC34A2