Abstract:
:XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) levels. His serum calcium was in the lower limit of the normal range. Whole exome sequencing of this subject found a novel non-sense variant c.424G>T (p. G142*) in the first exon of XLαs, which was inherited from his father and transmitted to his daughter. This variant was predicted to exclusively influence the expression of XLαs, while possibly having no significant effects on other gene products of this locus. Ellsworth-Howard test revealed normal renal response to PTH in proband. Human SaOS2 cells transfected with mutant XLαs failed to generate cyclic adenosine monophosphate under PTH stimulation, indicating skeletal resistance to this hormone. This subject showed higher circulating sclerostin, dickkopf1, and osteoprotegerin (OPG) levels, while lower receptor activator of nuclear factor kappa-B ligand/OPG ratio, leading to reduced bone resorption. Our findings indicate that XLαs plays a critical role in bone metabolism and GNAS locus should be considered as a candidate gene for high bone mass.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Chen X,Meng Y,Tang M,Wang Y,Xie Y,Wan S,Tian H,Yu Xdoi
10.1111/cge.13734subject
Has Abstractpub_date
2020-05-01 00:00:00pages
712-722issue
5eissn
0009-9163issn
1399-0004journal_volume
97pub_type
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:1992-11-01 00:00:00