Page 73 - Read Online
P. 73

Fichera et al. J Transl Genet Genom 2020;4:114-32  I  http://dx.doi.org/10.20517/jtgg.2020.16                                       Page 131

               Conflicts of interest
               All authors declared that there are no conflicts of interest.


               Ethics approval and consent to participate
               The study was conducted in accordance with the Declaration of Helsinki and national guidelines. Written
               informed consent was obtained from each subject’s parent(s) or their guardian, and the study was approved
               by E. Medea Scientific Institute Research Ethics Committee approval (Prot. No. 007/15-CE).

               Consent for publication
               Patient photographs are shown in cases where parents have consented to publication.

               Copyright
               © The Author(s) 2020.

               REFERENCES
               1.   Chatron N, Haddad V, Andrieux J, Desir J, Boute O, et al. Refinement of genotype-phenotype correlation in 18 patients carrying a
                   1q24q25 deletion. Am J Med Genet A 2015;167:1008-17.
               2.   Lefroy H, Fox O, Javaid MK, Makaya T, Shears DJ. 1q24 deletion syndrome. Two cases and new insights into genotype-phenotype
                   correlations. Am J Med Genet A 2018;176:2004-8.
               3.   Filges I, Bischof-Renner A, Röthlisberger B, Potthoff C, Glanzmann R, et al. Panhypopituitarism presenting as life-threatening heart
                   failure caused by an inherited microdeletion in 1q25 including LHX4. Pediatrics 2012;129:e529-34.
               4.   Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, et al. Distinctive phenotype in 9 patients with deletion of chromosome
                   1q24-q25. Am J Med Genet A 2011;155:1336-51.
               5.   Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, et al. A case of autism with an interstitial 1q deletion (1q23.3-24.2)
                   and a de novo translocation of chromosomes 1q and 5q. Am J Med Genet A 2007;143:2733-7.
               6.   Ashraf T, Collinson MN, Fairhurst J, Wang R, Wilson LC, et al. Two further patients with the 1q24 deletion syndrome expand the
                   phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition. Am J Med Genet A 2015;167:3153-60.
               7.   Lam F, Morris C. Nine year old boy with chromosome 1q23.3-q25.1 deletion. Am J Med Genet A 2016;170:3013-7.
               8.   Hoshina T, Seto T, Shimono T, Sakamoto H, Okuyama T, et al. Narrowing down the region responsible for 1q23.3q24.1 microdeletion by
                   identifying the smallest deletion. Hum Genome Var 2019;6:47.
               9.   Sun M, Lou J, Li Q, Chen J, Li Y, et al. Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3
                   encompassing PBX1 gene. Taiwan J Obstet Gynecol 2019;58:292-5.
               10.  Arcaleni E. Secular trend and regional differences in the stature of Italians. J Anthropol Sci 2012;90:233-7.
               11.  Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, et al. From FastQ data to high confidence variant calls: the genome
                   analysis toolkit best practices pipeline. Curr Protoc Bioinformatics 2013;43:11.10.1-33.
               12.  Yang H, Wang K. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc 2015;10:1556-66.
               13.  McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. The genome analysis toolkit: a mapreduce framework for analyzing
                   next-generation DNA sequencing data. Genome Res 2010;20:1297-303.
               14.  Chase MB, Baek SJ, Purtell DC, Schwartz S, Shen RF. Mapping of the human thromboxane synthase gene (TBXAS1) to chromosome
                   7q34-q35 by two-color fluorescence in situ hybridization. Genomics 1993;16:771-3.
               15.  Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, et al. De novo, deleterious sequence variants that alter the transcriptional
                   activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Hum Mol Genet
                   2017;26:4849-60.
               16.  Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, et al. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney
                   and urinary tract (CAKUT) in humans. J Med Genet 2017;54:502-10.
               17.  Genomic Relationships, Novel Loci. Pleiotropic mechanisms across eight psychiatric disorders. Cell 2019;179:1469-82.
               18.  Clausen MV, Hilbers F, Poulsen H. The structure and function of the Na,K-ATPase isoforms in health and disease. Front Physiol
                   2017;8:371.
               19.  Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, et al. Megalencephalic leukoencephalopathy with subcortical cysts
                   protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by
                   pathological mutations. Hum Mol Genet 2012;21:2166-80.
               20.  Krakow D, Vriens J, Camacho N, Luong P, Deixler H, et al. Mutations in the gene encoding the calciumpermeable ion channel TRPV4
                   produce spondylometaphyseal dysplasia, kozlowski type and metatropic dysplasia. American Journal of Human Genetics 2019;84:307-15.
               21.  Nilius B, Voets T. The puzzle of TRPV4 channelopathies. EMBO Reports 2013;14:152-63.
               22.  Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, et al. Compound heterozygous TRPV4 mutations in two siblings with a
                   complex phenotype including severe intellectual disability and neuropathy. Am J Med Genet A 2017;173:3087-92.
               23.  Watanabe T, Sato T, Amano T, Kawamura Y, Kawamura N, et al. Dnm3os, a non-coding RNA, is required for normal growth and skeletal
   68   69   70   71   72   73   74   75   76   77   78