An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 724-730

  Shimojima, Keiko ^a,b   Okamoto, Nobuhiko ^c   Tamasaki, Akiko ^d   Sangu, Noriko ^b   Shimada, Shino ^b   Yamamoto, Toshiyuki ^b  

^a JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d TOTTORI UNIVERSITY   (Japan)

Author keywords

19p13.2 microdeletion; Chiari malformation type I; Developmental delay; Malan syndrome; NFIX; Sotos syndrome like features (Sotos syndrome 2)

Indexed keywords

ARNOLD CHIARI MALFORMATION; ARTICLE; ARTIFICIAL VENTILATION; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 19P; CLINICAL FEATURE; DEPRESSED EYE ORBIT; ENTERIC FEEDING; FACE MALFORMATION; FEBRILE CONVULSION; FEMALE; FETUS DISTRESS; FLAT NASAL BRIDGE; FRONTAL BOSSING; GENETIC ASSOCIATION; HUMAN; HYPERTELORISM; INTELLIGENCE QUOTIENT; INTRAUTERINE GROWTH RETARDATION; INTUBATION; LONG PHILTRUM; LOW SET EAR; MACROCEPHALY; MALAN SYNDROME; MIDFACE HYPOPLASIA; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NEWBORN INTENSIVE CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEIZURE; SOTOS SYNDROME; SPARSE EYEBROW; TELECANTHUS; TENTED MOUTH; ABNORMALITIES, MULTIPLE; ARNOLD-CHIARI MALFORMATION; CHROMOSOME 19; CHROMOSOME DELETION; DIFFERENTIAL DIAGNOSIS; GENETICS; NUCLEOTIDE SEQUENCE;

ABNORMALITIES, MULTIPLE; ARNOLD-CHIARI MALFORMATION; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; SOTOS SYNDROME;

EID: 84925826031     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36959     Document Type: Article

References (20)

1. Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH. 2005. Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet Part A 137A:117-124.
2. Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J. 2009. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia 50:2501-2503.
3. Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O. 2010. Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet 18:1302-1309.
4. Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. 2010. A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med 12:503-511.
5. Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P, Weber RG. 2007. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology 68:743-750.
6. Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F. 2011. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. Am J Med Genet Part A 155A:2871-2878.
7. Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A:396-402.
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. 2014. 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 10.1038/ejhg.2014.162. [Epub ahead of print]. .
9. Lysy PA, Ravoet M, Wustefeld S, Bernard P, Nassogne MC, Wyns E, Sibille C. 2009. A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion. Am J Med Genet Part A 149A:2564-2568.
10. Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit, Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljic S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V. 2010. 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 87:189-198.
11. Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G. 2012. Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12-p13.13 deletion. Am J Med Genet Part A 158A:888-893.
12. Mori Y, Friedrich T, Kim MS, Mikami A, Nakai J, Ruth P, Bosse E, Hofmann F, Flockerzi V, Furuichi T, Mikoshiba K, Imoto K, Tanabe T, Numa S. 1991. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350:398-402.
13. Natiq A, Elalaoui SC, Miesch S, Bonnet C, Jonveaux P, Amzazi S, Sefiani A. 2014. A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay. Mol Cytogenet 7:40.
14. Nimmakayalu M, Horton VK, Darbro B, Patil SR, Alsayouf H, Keppler-Noreuil K, Shchelochkov OA. 2013. Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A. Am J Med Genet Part A 161A:1105-1109.
15. Nussbaum R, McInnes RR, Willard HF. editors. 2007. Thompson & Thompson Genetics in Medicine. Philadelphia: Saunders. p600.
16. Piper M, Harris L, Barry G, Heng YH, Plachez C, Gronostajski RM, Richards LJ. 2011. Nuclear factor one X regulates the development of multiple cellular populations in the postnatal cerebellum. J Comp Neurol Part A 519A:3532-3548.
17. Priolo M, Grosso E, Mammi C, Labate C, Naretto VG, Vacalebre C, Caridi P, Lagana C. 2012. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case. Gene Part A 511A:103-105.
18. Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T. 2011. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet Part A 155A:732-736.
19. Van der Aa N, Vandeweyer G, Kooy RF. 2010. A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12. Eur J Med Genet 53:291-293.
20. 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. 2012. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet 57:207-211.