Haploinsufficiency of ANKRD11 (16q24.3) is not obligatorily associated with cognitive impairment but shows a clinical overlap with silver-Russell syndrome

Molecular Syndromology

Volumn 4, Issue 5, 2013, Pages 246-249

  Spengler, S ^a   Oehl Jaschkowitz, B ^b   Begemann, M ^a   Hennes, P ^b,c   Zerres, K ^a   Eggermann, T ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b Gemeinschaftspraxis für Humangenetik and ^*  (Germany)

^c SAARLAND UNIVERSITY   (Germany)

Author keywords

16q24.3 microdeletion; ANKRD11 gene; KBG syndrome; Molecular karyotyping; Silver Russell syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME MICRODELETION 16Q24.3; COGNITIVE DEFECT; COPY NUMBER VARIATION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; INTELLIGENCE; KARYOTYPING; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; 16Q24.3 MICRODELETION SYNDROME; CHILD; CHROMOSOME 16Q; CONSANGUINEOUS MARRIAGE; GENETIC IDENTIFICATION; HETEROZYGOTE; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PATIENT REFERRAL;

ANKRD11 PROTEIN; GENOMIC DNA; PROTEIN; UNCLASSIFIED DRUG;

EID: 84880029998     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000351765     Document Type: Article

References (10)

1. Abu-Amero S, Monk D, Frost J, Preece M, Sta nier P, Moore GE: The genetic aetiology of Silver- Russell syndrome. J Med Genet 45: 193-199 (2008). (Pubitemid 351518723)
2. Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, et al: Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet 47: 816-822 (2010).
3. Isrie M, Hendriks Y, Gielissen N, Sistermans EA, Willemsen MH, et al: Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. Eur J Hum Genet 20: 131-133 (2012).
4. Kotzot D: Maternal uniparental disomy 7 and Silver- Russell syndrome - clinical update and comparison with other subgroups. Eur J Med Genet 51: 444-451 (2008).
5. Sacharow S, Li D, Fan YS, Tekin M: Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet 158A:547-552 (2012).
6. Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, et al: Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet 89: 289-294 (2011).
7. Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, et al: Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. J Pediatr 161: 933-942 (2012).
8. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, et al: 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 (2010).
9. Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB: Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 154: 958-968 (1995).
10. Youngs EL, Hellings JA, Butler MG: ANKRD11 gene deletion in a 17-year-old male. Clin Dysmorphol 20: 170-171 (2011).