Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Biomedical Papers

Volumn 160, Issue 1, 2016, Pages 161-167

  Jezela Stanek, Aleksandra ^a   Kucharczyk, Marzena ^a   Falana, Katarzyna ^a   Jurkiewicz, Dorota ^a   Mlynek, Marlena ^a   Wicher, Dorota ^a   Rydzanicz, Malgorzata ^b   Kugaudo, Monika ^a,b   Cieslikowska, Agata ^a   Ciara, Elzbieta ^a   Ploski, Rafal ^b   Krajewska Walasek, Malgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

19p13.2 deletion; Malan syndrome; NFIX gene; NFIX mutation; Sotos syndrome 2

Indexed keywords

NFIX PROTEIN, HUMAN; NUCLEAR FACTOR I;

CASE REPORT; CHILD; CHROMOSOME 19; CHROMOSOME DELETION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; PHENOTYPE; SOTOS SYNDROME;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; NFI TRANSCRIPTION FACTORS; PHENOTYPE; SOTOS SYNDROME;

EID: 84962424380     PISSN: 12138118     EISSN: 18047521     Source Type: Journal    
DOI: 10.5507/bp.2016.006     Document Type: Article

References (20)

1. Lysy PA, Ravoet M, Wustefeld S, Bernard P, Nassogne MC, Wyns E, Sibille C. A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion. Am J Med Genet A 2009;149A(11):2564-2.
2. Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med 2010;12(8):503-21.
3. Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 2010;87(2):189-28.
4. Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Med Genet A 2013;161A(7):1722-2.
5. Wangensteen T, Retterstol L, Rodningen OK, Hjelmesaeth J, Aukrust P, Halvorsen B. De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability. Am J Med Genet A 2013;161A(6):1480-2.
6. Natiq A, Elalaoui SC, Miesch S, Bonnet C, Jonveaux P, Amzazi S, Sefiani A. A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay. Mol Cytogenet 2014;7:40.
7. Schwemmle C, Rost I, Spranger S, Jungheim M, Ptok M. A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature. Int J Pediatr Otorhinolaryngol 2014;78(7):1190-2.
8. Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Eur J Hum Genet 2015;23(5):610-2.
9. Shimojima K, Okamoto N, Tamasaki A, Sangu N, Shimada S, Yamamoto T. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. Am J Med Genet A 2015;167A(4):724-20.
10. Priolo M, Grosso E, Mammi C, Labate C, Naretto VG, Vacalebre C, Caridi P, Lagana C. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case. Gene 2012;511(1):103-2.
11. Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N. Missense mutations in the DNAbinding/ dimerization domain of NFIX cause Sotos-like features. J Hum Genet 2012;57(3):207-21.
12. Ploski R, Pollak A, Muller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res 2014;114(2):e2-2.
13. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25(14):1754-20.
14. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20(9):1297-203.
15. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011;43(5):491-2.
16. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38(16):e164.
17. Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. Integrative genomics viewer. Nat Biotechnol 2011;29(1):24-2.
18. Avsian-Kretchmer O, Hsueh AJ. Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists. Mol Endocrinol 2004;18(1):1-22.
19. Olkku A, Mahonen A. Calreticulin mediated glucocorticoid receptor export is involved in beta-catenin translocation and Wnt signalling inhibition in human osteoblastic cells. Bone 2009;44(4):555-25.
20. Campbell CE, Piper M, Plachez C, Yeh YT, Baizer JS, Osinski JM, Litwack ED, Richards LJ, Gronostajski RM. The transcription factor Nfix is essential for normal brain development. BMC Dev Biol 2008;8:52.