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Abbreviations MS – Muenke syndrome FGFR3 – fibroblast growth factor receptor 3 CGH – Comparative Genomic Hybridization MLPA – Multiplex Ligation-dependent Probes Amplification EDTA – Ethylenediaminetetraacetic acid DNA – Deoxyribonucleic acid PCR – Polymerase Chain Reaction NCBI – National Center for Biotechnology Information References 1. Miller K, Twigg S, McGowan S, Phipps J, Fenwick A, Johnson D, et al. Diagnostic value of exome and whole genome sequencing in craniosynostosis. J Med Genet. 2017 Apr;54(4):260-8. DOI: 10.1136/jmedgenet-2016-104215 2

Abstract

Molecular diagnosis relieves patients of uncertainty, aids informed decisions about health and reproductive choices, and helps them join clinical trials or access available therapy. Genetic testing by next generation sequencing (NGS) is the suggested choice for a wide variety of disorders with heterogeneous phenotypes, alleles and loci. The development of a NGS service at MAGI Balkans, through the support of a partner, increases the availability of forefront genetic testing in Albania with great advantages for patients and their families. Here we report the NGS tests performed in collaboration with MAGI Euregio, Italy, for the diagnosis of rare genetic disease in seven probands and their families. The diseases/manifestations included ichthyosis, familial adenomatous polyposis, diabetes, syndromic craniosynostosis, fronto-temporal dementia, fragile X syndrome and ataxia. We obtained an overall detection rate of 57%. For 4/7 probands we identified a pathogenic or likely pathogenic variant, while for the others, the results did not completely explain the phenotype. All variants were confirmed by Sanger sequencing. Segregation of the variant with the affected phenotype was also evaluated.

Abstract

We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal.

Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.

. 2002; 12(5):494-495. 13. Porciani MC, Attanasio M, Lepri V, Lapini I, Demarchi G, Padeletti L, et al. Prevalence of cardiovascular manifestations in Marfan syndrome. Ital Heart J Suppl. 2004; 5(8): 647-652. 14. Mégarbané A, Hokayem N. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case. Am J Med Genet. 1998; 77(2): 170-171.

References 1. Baird L.C., Proctor M.R.: Craniosynostosis, Albright A.L., Pollack I.F., Adelson P.D. Principles and Practice of Pediatric Neurosurgery, 3th edition, Thieme : 237-248, 2014 2. David D.J., Poswillo D., Simpson D.: The Craniosynostoses: causes, natural history and management, Springer-Verlag, Trigonocephaly : 133-140, 1982 3. Di Rocco C.: Nonsyndromic craniosynostosis, Sandou M., Practical Handbook of Neurosurgery, SpringerWienNeyYork, Volume 2: 561-582, 2009 4. Greenberg M.S.: Handbook of neurosurgery, 7th edition, Thieme, Craniosynostosys : 228

molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26:471-477 12. Bănescu C. Do we really need genetic tests in current clinical practice? Rev Romana Med Lab. 2019;27:9-14 13. Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12:879-890 14. Schlump JU, Stein A, Hehr U, et al. Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation

patients. J Clin Lab Anal, 2006;20:23-26. 5. Eswarakumar VP, Horowitz MC, Locklin R, Morriss- Kay GM, Lonai P. A gain-of function mutation of FGFR2c demonstrates the roles of this receptor variant in osteogenesis. Proc Natl Acad Sci USA, 2004;101:12555-12560. 6. Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst, 2012;28:1447-1463. 7. Johnson D, Wilkie A O M. Craniosynostosis. Eur J Hum Genet, 2011;19:369-376. 8. Ciurea AV, Toader C. Genetics of craniosynostosis: review of the

. Cluj- Napoca: Editura Medicală Universitară ”Iuliu Hațieganu”, 2008; p. 1-28. 5. Arvidson LZ, Fjeld MG, Smith HJ, Flatø B, Ogaard B, Larheim TA. Craniofacial growth disturbance is related to temporomandibular joint abnormality in patients with juvenile idiopathic arthritis, but normal facial profile was also found at the 27-year follow-up. Scand J Rheumatol. 2010;39:373-379. 6. Laue K, Pogoda HM, Daniel PB, et al. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet

-2017-0004 14. Bogliş A, Tripon F, Bănescu C. The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26(4):471-7. DOI: 10.2478/rrlm-2018-0033 15. Goidescu IG, Eniu DT, Caracostea GV, Cruciat G, Stamatian F. Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population. Rev Romana Med Lab. 2018;26(2):165-75. DOI: 10.1515/rrlm-2017-0037 16. Maier D, Florea A, Tilinca MC, Zazgyva A, Cosgarea R. NIPAL4 mutation c.527C

for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect. Rev Romana Med Lab. 2018;26(4):461-70. DOI: 10.2478/rrlm-2018-0032 4. Bogliş A, Tripon F, Bănescu C. The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26(4):471-7. DOI: 10.2478/rrlm-2018-0033 5. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a