14q12 microdeletion syndrome

MedGen UID:: 930909
•Concept ID:: C4305240
•: Disease or Syndrome

Synonyms:	Del(14)(q12); FOXG1 syndrome due to 14q12 microdeletion; Monosomy 14q12; monosomy 14q12
SNOMED CT:	14q12 microdeletion syndrome (719574007); Monosomy 14q12 (719574007)

Monarch Initiative:	MONDO:0016833
Orphanet:	ORPHA261144

Definition

A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV14q12 microdeletion syndrome

Monogenic epilepsy
- FOXG1 syndrome
  - 14q12 microdeletion syndrome

Recent clinical studies

Diagnosis

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T
Eur J Med Genet 2013 Sep;56(9):526-8. Epub 2013 Jul 26 doi: 10.1016/j.ejmg.2013.05.012. PMID: 23895774

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B
Am J Med Genet A 2011 Aug;155A(8):1884-96. Epub 2011 Jul 8 doi: 10.1002/ajmg.a.34090. PMID: 21744488

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P
Eur J Hum Genet 2011 Jan;19(1):102-7. Epub 2010 Aug 25 doi: 10.1038/ejhg.2010.142. PMID: 20736978 Free PMC Article

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ
Eur J Med Genet 2009 Nov-Dec;52(6):440-2. Epub 2009 Sep 20 doi: 10.1016/j.ejmg.2009.09.004. PMID: 19772934

See all (4)

Prognosis

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J
Eur J Hum Genet 2013 May;21(5):522-7. Epub 2012 Sep 12 doi: 10.1038/ejhg.2012.208. PMID: 22968132 Free PMC Article

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A
Eur J Med Genet 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19 doi: 10.1016/j.ejmg.2009.03.004. PMID: 19303466

See all (2)