{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(11)"],"submitter":["Mustafa S"],"funding":["Higher Education Commission of Pakistan","Bahauddin Zakariya University Multan Pakistan"],"pubmed_abstract":["<h4>Background</h4>Brachyolmia is a skeletal disorder with an autosomal mode of inheritance (both dominant and recessive) in which the patients have a short height, scoliosis and a reduced trunk size.<h4>Methods</h4>From the Muzaffargarh District in Pakistan, a consanguineous family with multiple Brachyolmia-affected subjects were enrolled in the present study. Basic epidemiological data and radiographs were collected for the subjects. Whole exome sequencing (WES) which was followed by Sanger sequencing was applied to report the geneticbasic of Brachyolmia.<h4>Results</h4>The WES identified a missense mutation (c.1037 G > C, p. R346P) in exon 9 of the <i>PAPSS2</i> gene that was confirmed by the Sanger sequencing in the enrolled subjects. The mutation followed a Mendalian pattern with an a"],"journal":["Genes"],"pagination":["2096"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9690184"],"repository":["biostudies-literature"],"pubmed_title":["A Missense Mutation (c.1037 G > C, p. R346P) in <i>PAPSS2</i> Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family."],"pmcid":["PMC9690184"],"pubmed_authors":["Faisal M","Mustafa S","Hussain MF","Ijaz M","Hassan M","Iqbal F","Latif M","Asif M"],"additional_accession":[]},"is_claimable":false,"name":"A Missense Mutation (c.1037 G > C, p. R346P) in <i>PAPSS2</i> Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.","description":"<h4>Background</h4>Brachyolmia is a skeletal disorder with an autosomal mode of inheritance (both dominant and recessive) in which the patients have a short height, scoliosis and a reduced trunk size.<h4>Methods</h4>From the Muzaffargarh District in Pakistan, a consanguineous family with multiple Brachyolmia-affected subjects were enrolled in the present study. Basic epidemiological data and radiographs were collected for the subjects. Whole exome sequencing (WES) which was followed by Sanger sequencing was applied to report the geneticbasic of Brachyolmia.<h4>Results</h4>The WES identified a missense mutation (c.1037 G > C, p. R346P) in exon 9 of the <i>PAPSS2</i> gene that was confirmed by the Sanger sequencing in the enrolled subjects. The mutation followed a Mendalian pattern with an a","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-21T18:59:32.524Z","creation":"2024-12-04T01:41:01.391Z"},"accession":"S-EPMC9690184","cross_references":{"pubmed":["36421772"],"doi":["10.3390/genes13112096"]}}