The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

The conditions for PCR amplification of GJB2 and GJB6 genes coding sequences (primer sequences, annealing temperature, lengths of the amplicons). (PDF 8 kb

Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome

Gastrointestinal (GI) problems are common in Phelan-McDermid syndrome (PMS). Chewing and swallowing  difficulties, dental problems, reflux disease, cyclic vomiting, constipation, incontinence, diarrhoea, and nutritional deficiencies have been most frequently reported. Therefore, this review summarises current findings on GI  problems and addresses the fundamental questions, which were based on parental surveys, of how frequent GI  problems occur in PMS, what GI problems occur, what consequences (e.g., nutritional deficiencies) GI problems  cause for individuals with PMS, and how GI problems can be treated in individuals with PMS. Our findings show  that gastrointestinal problems have a detrimental effect on the health of people with PMS and are a significant  burden for their families. Therefore, we advise evaluation for these problems and formulate care  recommendations.  </p

Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift

Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries have initiated population-based whole-genome sequencing (WGS) studies. Genomic variation within Lithuanian families are not available in the public databases. Here, we describe initial findings of a high-coverage (an average of 36.27&times;) whole genome sequencing for 25 trios of the Lithuanian population. Each genome on average carried approximately 4,701,473 (&plusmn;28,255) variants, where 80.6% (3,787,626) were single nucleotide polymorphisms (SNPs), and the rest 19.4% were indels. An average of 12.45% was novel according to dbSNP (build 150). The WGS structural variation (SV) analysis identified on average 9133 (&plusmn;85.10) SVs, of which 95.85% were novel. De novo single nucleotide variation (SNV) analysis identified 4417 variants, where 1.1% de novo SNVs were exonic, 43.9% intronic, 51.9% intergenic, and the rest 3.13% in UTR or downstream sequence. Three potential pathogenic de novo variants in the ZSWIM8, CDC42EP1, and RELA genes were identified. Our findings provide useful information on local human population genomic variation, especially for de novo variants, and will be a valuable resource for further genetic studies, and medical implications

Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift

Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries have initiated population-based whole-genome sequencing (WGS) studies. Genomic variation within Lithuanian families are not available in the public databases. Here, we describe initial findings of a high-coverage (an average of 36.27×) whole genome sequencing for 25 trios of the Lithuanian population. Each genome on average carried approximately 4,701,473 (±28,255) variants, where 80.6% (3,787,626) were single nucleotide polymorphisms (SNPs), and the rest 19.4% were indels. An average of 12.45% was novel according to dbSNP (build 150). The WGS structural variation (SV) analysis identified on average 9133 (±85.10) SVs, of which 95.85% were novel. De novo single nucleotide variation (SNV) analysis identified 4417 variants, where 1.1% de novo SNVs were exonic, 43.9% intronic, 51.9% intergenic, and the rest 3.13% in UTR or downstream sequence. Three potential pathogenic de novo variants in the ZSWIM8, CDC42EP1, and RELA genes were identified. Our findings provide useful information on local human population genomic variation, especially for de novo variants, and will be a valuable resource for further genetic studies, and medical implications

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay. (DOCX 69 kb

Additional file 2: of The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

Dataset of the group of affected individuals (DEAFGEN project). (PDF 191 kb