2q23.1 microdeletion syndrome

MedGen UID:: 930201
•Concept ID:: C4304532
•: Disease or Syndrome

Synonyms:	chromosome 2q23.1 microdeletion syndrome; Del(2)(q23.1); Monosomy 2q23.1; monosomy 2q23.1; Pseudo-Angelman syndrome; pseudo-Angelman syndrome
SNOMED CT:	2q23.1 microdeletion syndrome (719657001); Monosomy 2q23.1 (719657001); Pseudo-Angelman syndrome (719657001)
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 Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Unknown inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0016459
Orphanet:	ORPHA228402

Definition

The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV2q23.1 microdeletion syndrome

Chromosomal anomaly with epilepsy as a major feature
- 2q23.1 microdeletion syndrome

Recent clinical studies

Etiology

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH
Am J Hum Genet 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. PMID: 21981781 Free PMC Article

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Diagnosis

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH
Eur J Hum Genet 2014 Jan;22(1):57-63. Epub 2013 May 1 doi: 10.1038/ejhg.2013.67. PMID: 23632792 Free PMC Article

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB
Eur J Hum Genet 2010 Feb;18(2):163-70. Epub 2009 Oct 7 doi: 10.1038/ejhg.2009.152. PMID: 19809484 Free PMC Article

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Therapy

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K
Am J Med Genet A 2012 Apr;158A(4):861-8. Epub 2012 Mar 9 doi: 10.1002/ajmg.a.35235. PMID: 22407754

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Prognosis

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P
Eur J Hum Genet 2013 Dec;21(12):1457-61. Epub 2013 Feb 20 doi: 10.1038/ejhg.2013.22. PMID: 23422940 Free PMC Article

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH
Eur J Hum Genet 2010 Apr;18(4):436-41. Epub 2009 Nov 11 doi: 10.1038/ejhg.2009.199. PMID: 19904302 Free PMC Article

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