ClinVar

Description

This imbalance is expected to cause phenotypic and/or developmental abnormalities. This deletion involves multiple genes including SLC6A1 and SLC6A11. Haploinsufficiency of SLC6A1 causes autosomal dominant Myoclonic-atonic epilepsy (OMIM 616421)(also refer to Neurogenetics. 2017 Dec;18(4):195-205. PMID: 28849312). In addition, patients with proximal 3p25.3 microdeletions, including a de novo 1.33 Mb deletion very similar to the current one, have been characterized by ID, epilepsy/EEG abnormalities, poor speech, ataxia and stereotypic hand movements. A 540 kb smallest region of overlap (SRO) among these microdeletions has been proposed to contain 4 genes: SLC6A 11, SLC6A1, HRH1 and ATG7, which are all affected by the current deletion (Am J Hum Genet. 2015 May 7;96(5):808-15. PMID: 25865495; Am J Med Genet A. 2014 Dec;164A(12):3061-8. PMID: 25256099; Genet Med. 2017 Jan;19(1):13-19. PMID: 27171548; PMCID: PMC5107176). In addition, haploinsufficiency of PPARG gene or substantial activity loss due to dominant negative interference of the normal PPARG allele product's function has been reported to each contribute to autosomal dominant Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, OMIM 604367) (also refer to Arterioscler Thromb Vasc Biol. 2013 Apr;33(4):829-38.PMID: 23393388; BMC Med Genet. 2006 Jan 14;7:3. PMID: 16412238; Clin Genet. 2006 Oct;70(4):360-2. PMID: 16965332; Diabetes. 2020 Feb;69(2):249-258. PMID: 31836692).