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12q14 microdeletion syndrome

MedGen UID:
930809
•Concept ID:
C4305140
•
Disease or Syndrome
Synonyms: Del(12)(q14); Deletion 12q14; deletion 12q14; Monosomy 12q14; monosomy 12q14; Osteopoikilosis with short stature and intellectual disability syndrome; osteopoikilosis-short stature-intellectual disability syndrome; Osteopoikilosis-short stature-intellectual disability syndrome
SNOMED CT: 12q14 microdeletion syndrome (719046005); Osteopoikilosis with short stature and intellectual disability syndrome (719046005); Monosomy 12q14 (719046005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019784
Orphanet: ORPHA94063

Definition

This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV12q14 microdeletion syndrome

Recent clinical studies

Etiology

Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes.
Gorbenko del Blanco D, de Graaff LC, Posthouwer D, Visser TJ, Hokken-Koelega AC
Eur J Endocrinol 2011 Oct;165(4):537-44. Epub 2011 Jul 29 doi: 10.1530/EJE-11-0478. PMID: 21803798

Diagnosis

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Heldt F, Wallaschek H, Ripperger T, Morlot S, Illig T, Eggermann T, Schlegelberger B, Scholz C, Steinemann D
Eur J Med Genet 2018 Aug;61(8):421-427. Epub 2018 Mar 1 doi: 10.1016/j.ejmg.2018.02.010. PMID: 29501611
12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM
Am J Med Genet A 2012 Nov;158A(11):2925-30. Epub 2012 Sep 14 doi: 10.1002/ajmg.a.35610. PMID: 22987822
Report of a mother and daughter with the 12q14 microdeletion syndrome.
Bibb AL, Rosenfeld JA, Weaver DD
Am J Med Genet A 2012 Feb;158A(2):417-22. Epub 2011 Dec 2 doi: 10.1002/ajmg.a.34397. PMID: 22140081
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Lynch SA, Foulds N, Thuresson AC, Collins AL, Annerén G, Hedberg BO, Delaney CA, Iremonger J, Murray CM, Crolla JA, Costigan C, Lam W, Fitzpatrick DR, Regan R, Ennis S, Sharkey F
Eur J Hum Genet 2011 May;19(5):534-9. Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.215. PMID: 21267005Free PMC Article
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A
Eur J Hum Genet 2009 Sep;17(9):1141-7. Epub 2009 Mar 11 doi: 10.1038/ejhg.2009.27. PMID: 19277063Free PMC Article

Therapy

The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report.
Ping Y, Luo L, Chen Y, Ge Y, Shen Y, Zhou H
J Pediatr Endocrinol Metab 2023 Aug 28;36(8):798-802. Epub 2023 Jun 8 doi: 10.1515/jpem-2023-0060. PMID: 37283093
Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition.
Nso-Roca AP, Marco FC, Ricote JM, Ruiz MJ
J Pediatr Endocrinol Metab 2014 May;27(5-6):539-43. doi: 10.1515/jpem-2013-0239. PMID: 24468604

Clinical prediction guides

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Heldt F, Wallaschek H, Ripperger T, Morlot S, Illig T, Eggermann T, Schlegelberger B, Scholz C, Steinemann D
Eur J Med Genet 2018 Aug;61(8):421-427. Epub 2018 Mar 1 doi: 10.1016/j.ejmg.2018.02.010. PMID: 29501611
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
Buysse K, Reardon W, Mehta L, Costa T, Fagerstrom C, Kingsbury DJ, Anadiotis G, McGillivray BC, Hellemans J, de Leeuw N, de Vries BB, Speleman F, Menten B, Mortier G
Eur J Med Genet 2009 Mar-Jun;52(2-3):101-7. Epub 2009 Mar 17 doi: 10.1016/j.ejmg.2009.03.001. PMID: 19298872
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A
Eur J Hum Genet 2009 Sep;17(9):1141-7. Epub 2009 Mar 11 doi: 10.1038/ejhg.2009.27. PMID: 19277063Free PMC Article

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