{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["LaCroix AJ"],"funding":["National Institute of General Medical Sciences of the National Institutes of Health","Nemours Genetics Cluster","NICHD NIH HHS","NHLBI","NIH IDeA program","NHGRI","NHGRI NIH HHS","NIGMS NIH HHS"],"pagination":["35-44"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6323552"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["104(1)"],"pubmed_abstract":["Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigation of 10 families (12 individuals) with BSS. Standard sequencing methods identified biallelic pathogenic variants in XYLT1 in only two families. Of the remaining cohort, two probands had no variants and six probands had only a single variant, including four with a heterozygous 3.1 Mb 16p13 deletion encompassing XYLT1 and two with a heterozygous truncating variant. Bisulfite sequencing revealed aberrant hypermethylation in exon 1 of XYLT1, always in trans with the sequence variant or deletion when present; both alleles were methylated in those "],"journal":["American journal of human genetics"],"pubmed_title":["GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome."],"pmcid":["PMC6323552"],"funding_grant_id":["P30GM114736","P20 GM103446","P20GM103446","UM1 HG006493","U54 HD083091","U24 HG008956","P30 GM114736"],"pubmed_authors":["Anadiotis G","Robbins KM","Duker AL","Akkari YM","Dempsey JC","Gripp KW","Bober MB","Nickerson DA","Bamshad MJ","University of Washington Center for Mendelian Genomics","Stabley D","Kircher M","LaCroix AJ","Adam MP","Myers CT","Sol-Church K","Mehaffey M","Baratela WAR","Miller DG","Mefford HC","Sahraoui R","Doherty D","Kernan K","Fagerstrom C"],"additional_accession":[]},"is_claimable":false,"name":"GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.","description":"Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigation of 10 families (12 individuals) with BSS. Standard sequencing methods identified biallelic pathogenic variants in XYLT1 in only two families. Of the remaining cohort, two probands had no variants and six probands had only a single variant, including four with a heterozygous 3.1 Mb 16p13 deletion encompassing XYLT1 and two with a heterozygous truncating variant. Bisulfite sequencing revealed aberrant hypermethylation in exon 1 of XYLT1, always in trans with the sequence variant or deletion when present; both alleles were methylated in those ","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Jan","modification":"2026-05-07T00:07:38.122Z","creation":"2019-07-25T07:12:05Z"},"accession":"S-EPMC6323552","cross_references":{"pubmed":["30554721"],"doi":["10.1016/j.ajhg.2018.11.005"]}}