Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

American Journal of Medical Genetics, Part A

Volumn 170, Issue 2, 2016, Pages 498-503

  Bosson, Caroline ^a,b   Devillard, Françoise ^a   Satre, Véronique ^a,b,c   Dieterich, Klaus ^a,b   Ray, Pierre F ^a,b,c   Morand, Béatrice ^a   Dubois Teklali, Fanny ^a   Vieville, Gaëlle ^a   Andrieux, Joris ^d   Brouillet, Sophie ^a,b,e   Amblard, Florence ^a   Jouk, Pierre Simon ^a,b   Coutton, Charles ^a,b,c  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b UNIV GRENOBLE ALPES   (France)

^c INSTITUT ALBERT BONNIOT   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e CEA GRENOBLE   (France)

Author keywords

Craniofacial anomalies; Deletion 22q12.1; MN1; NF2

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q12.1 DELETION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL EVALUATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GLOBAL DEVELOPMENTAL DELAY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; MN1 GENE; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; ADULT; CHROMOSOME 22; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETICS; MIDDLE AGED; PHENOTYPE;

MN1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; TUMOR SUPPRESSOR PROTEINS;

EID: 84956936430     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37450     Document Type: Article

References (13)

1. Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G. 2009. Elements of morphology: Standard terminology for the head and face. Am J Med Genet Part A 149A:6-28.
2. Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, Terinde R, Wirth J, Vogel W, Kehrer-Sawatzki H. 2002. Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. J Med Genet 39:e6-e6.
3. Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA. 2015. Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. Am J Med Genet Pat A 167A:1047-1053.
4. Bozec A, Bakiri L, Hoebertz A, Eferl R, Schilling AF, Komnenovic V, Scheuch H, Priemel M, Stewart CL, Amling M, Wagner EF. 2008. Osteoclast size is controlled by Fra-2 through LIF/LIF-receptor signalling and hypoxia. Nature 454:221-225.
5. Bruder CEG, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. 2001. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 10:271-282.
6. Bruder CEG, Ichimura K, Blennow E, Ikeuchi T, Yamaguchi T, Yuasa Y, Collins VP, Dumanski JP. 1999. Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene? Genes Chromosomes Cancer 25:184-190.
7. Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu S, Panigrahy A, Shimada H, Erdreich-Epstein A. 2012. Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): A case report and review of the literature. BMC Med Genet 13:19.
8. Hamm JA, Robin NH. 2015. Newborn craniofacial malformations: Orofacial clefting and craniosynostosis. Clin Perinatol 42:321-336.
9. Joshi N, Hamdan AM, Fakhouri WD. 2014. Skeletal malocclusion: A developmental disorder with a life-long morbidity. J Clin Med Res 6:399-408.
10. Meester-Smoor MA, Vermeij M, Helmond MJL, van Molijn AC, Wely KHM, van Hekman ACP, Vermey-Keers C, Riegman PHJ, Zwarthoff EC. 2005. Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. Mol Cell Biol 25:4229-4236.
11. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. 2006. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic intellectual disability and multiple congenital anomalies: A new series of 140 patients and review of published reports. J Med Genet 43:625-633.
12. Said E, Cuschieri A, Vermeesch J, Fryns JP. 2011. Toriello-Carey syndrome with a 6 Mb interstitial deletion at 22q12 detected by array CGH. Am J Med Genet Part A 155A:1390-1392.
13. Vettraino IM, Lee W, Bronsteen RA, Harper CE, Aughton D, Comstock CH. 2003. Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia. Obstet Gynecol 102:801-805.