{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:18Z","timestamp":1780308078891,"version":"3.54.0"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T00:00:00Z","timestamp":1771891200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T00:00:00Z","timestamp":1771891200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>ATP6V0A2<\/jats:italic>\n                    \u2010related cutis laxa is a rare autosomal recessive disorder characterized by connective tissue abnormalities, developmental delay, and neurological features. While multiple sequence variants have been reported, exon\u2010level deletions are rarely documented, and their clinical significance remains largely unknown. This study aims to present the clinical and molecular characteristics of a novel frameshift variant and recurrent exon 16 deletions in the\n                    <jats:italic>ATP6V0A2<\/jats:italic>\n                    gene, to investigate a potential founder effect in southeastern T\u00fcrkiye, and to contribute to the expanding genotype\u2013phenotype correlation in\n                    <jats:italic>ATP6V0A2<\/jats:italic>\n                    \u2010related cutis laxa. Ten cases from six unrelated families were evaluated. Exome sequencing, clinical exome sequencing, long\u2010range polymerase chain reaction, gel electrophoresis, and haplotype analysis were performed. Variant interpretation followed ACMG and ClinGen guidelines. Clinical features were assessed through physical examination, developmental history, and neuroimaging. A novel homozygous frameshift variant (c.235del, p.Leu79Phefs*13) associated with severe neurological regression was identified in one case. Nine individuals carried a recurrent homozygous 380\u2009bp deletion spanning exon 16 (c.1936\u2010147_2055+113del). In our study, neurological regression\u2014a feature rarely reported in the literature\u2014was noted in two older patients. Haplotype analysis revealed shared homozygous regions in three cases, suggesting a founder effect. This cohort represents the largest reported series of\n                    <jats:italic>ATP6V0A2<\/jats:italic>\n                    \u2010CL cases with exon 16 deletion to date. This study expands the genotypic and phenotypic spectrum of\n                    <jats:italic>ATP6V0A2<\/jats:italic>\n                    \u2010CL and underscores the importance of copy number variation detection in next\u2010generation sequencing\u2010based diagnostics. The identification of a recurrent exon 16 deletion and shared haplotypes provides evidence for a founder effect in southeastern T\u00fcrkiye and supports the implementation of population\u2010specific screening for this variant.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70102","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:10:49Z","timestamp":1772989849000},"page":"1515-1527","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>ATP6V0A2<\/i>\n                    \u2010Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern T\u00fcrkiye and a Novel Frameshift Variant"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6579-6132","authenticated-orcid":false,"given":"Zeynep","family":"Esener","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine 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