A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1073-1077

  Miyatake, Satoko ^a   Murakami, Akira ^a   Okamoto, Nobuhiko ^b   Sakamoto, Michiko ^c   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

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

^c Takarazuka Municipal Center for Handicapped Children   (Japan)

Author keywords

16q24.3 microdeletion syndrome; ANKRD11; De novo deletion; KBG syndrome

Indexed keywords

16Q24.3 MICRODELETION SYNDROME; ANKYRIN REPEAT DOMAIN 11 GENE; ARTICLE; ATAXIA; BONE AGE; BRACHYDACTYLY; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FACE DYSMORPHIA; FACIES; GENE DELETION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; JAPANESE; KBG SYNDROME; MALE; MUTATOR GENE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME DELETION; DIAGNOSIS, DIFFERENTIAL; FACIES; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; REPRESSOR PROTEINS; TOOTH ABNORMALITIES;

EID: 84876815778     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35661     Document Type: Article

References (10)

1. Brancati F, Sarkozy A, Dallapiccola B. 2006. KBG syndrome. Orphanet J Rare Dis 1:50.
2. Herrmann J, Pallister PD, Tiddy W, Opitz JM. 1975. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser 11:7-18.
3. Isrie M, Hendriks Y, Gielissen N, Sistermans EA, Willemsen MH, Peeters H, Vermeesch JR, Kleefstra T, Van Esch H. 2012. Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. Eur J Hum Genet. 20:131-133.
4. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. 2008. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82:477-488.
5. Sacharow S, Li D, Fan YS, Tekin M. 2012. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet Part A 158A:547-552.
6. Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. 2011. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet 89:289-294.
7. Skjei KL, Martin MM, Slavotinek AM. 2007. KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet Part A 143:292-300.
8. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. 2010. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet 18:429-435.
9. Youngs EL, Hellings JA, Butler MG. 2011. ANKRD11 gene deletion in a 17-year-old male. Clin Dysmorphol 20:170-171.
10. Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G. 1994. Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria. Am J Med Genet 52:302-307.