Mutations of HRPT2/CDC73 gene in patients with parathyroid carcinoma.

<p>ND: not determined owing to the unavailability of germ-line DNA.</p

H&E staining and IHC staining in tissue samples of different types of PHPT(200×).

<p>NP, normal parathyroid tissue; PH, parathyroid hyperplasia PA, parathyroid adenoma; PC, parathyroid carcinoma A–D H&E staining of normal parathyroid tissue,parathyroid hyperplasia, parathyroid adenoma and parathyroid carcinoma E–G IHC of Parafibromin is specific nuclear staining in normal parathyroid tissue,parathyroid hyperplasia, parathyroid adenoma, brown granulation can be seen in positive nuclear side H Typical loss staining of Parafibromin in PCA–D H&E staining of normal parathyroid tissue,parathyroid hyperplasia, parathyroid adenoma and parathyroid carcinoma E–G IHC of Parafibromin is specific nuclear staining in normal parathyroid tissue, parathyroid hyperplasia, parathyroid adenoma, brown granulation can be seen in positive nuclear side H Typical loss staining of Parafibromin in PC.</p

The primer for amplification of <i>HRPT2/CDC73</i> gene.

<p>Exon 2, 3, 4, 8 and 14 were designed by Primer5.0, the others as reference <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0045567#pone.0045567-Juhlin1" target="_blank">[¹⁸]</a>.</p

Mutations of <i>HRPT2/CDC73</i> gene.

<p>Mutations of <i>HRPT2/CDC73</i> gene.</p

Comparison between the PC patients with and without HRPT2/CDC73 mutation.

#<p>size of the parathyroid tumor at the first surgery;</p>*<p>biochemical markers before the first surgery; NK: not known; UL: upper limit.</p

The X-ray images of patient II 1 in family 2.

<p>(A) Flattened vertebrae on the cervical spine and normal skull; (B) flattened vertebrae on the thoracic and lumbar spine with anterior beaking and an increased anteroposterior diameter of the vertebral bodies; (C) enlargement of the interphalangeal, metacarpal and metacarpophalangeal epiphyses; (D) narrow joint spaces and irregular articular surfaces of hip joints with short femoral necks; (E) slight enlargement of elbow epiphyses and metaphyses; (F) flattened talus with narrow joint spaces.</p

The X-ray images of patient II 1 in family 1.

<p>(G) Platyspondyly of the lumbar spine: the vertebral bodies are wedged anteriorly, and there are narrow disc spaces, irregular vertebral end-plates and short pedicles; (H) enlargement of the epiphyseal and metaphyseal portions of the metacarpals and phalanges; (I) bilateral femoral neck fractures and enlargement of the capital femoral epiphyses; (J) an enlargement of genual epiphyses.</p

General characteristics of 4 PPD patients in two families

<p>“+”: positive manifestations; “−”: normal. “LFE”: Limited flexion and extension. The data of age are showed in years.</p

Sequences of the primers designed for PCR amplification and sequencing of the <i>WISP3</i> gene

<p>“AT”: Anneal Temperature.</p

Summary of all currently known <i>WISP3</i> gene mutations in PPD

*<p>Nucleotide numbers refer to genomic DNA and are numbered from the transcription start site. Amino acid replacement mutations are indicated according to codon number; The reference sequence is available on the NCBI (GenBank accession number: NM_003880.3).</p