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Mosaic variegated aneuploidy syndrome 4(MVA4)

MedGen UID:: 1824040
•Concept ID:: C5774267
•: Disease or Syndrome

Synonym:	MVA4

Gene (location): Gene(s) directly associated with this condition or phenotype.	CENATAC (11q23.3)

Monarch Initiative:	MONDO:0859329
OMIM®:	620153

Definition

Mosaic variegated aneuploidy syndrome-4 (MVA4) is an autosomal recessive disorder resulting from errors in chromosome segregation. In addition to mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy (de Wolf et al., 2021). [from OMIM]

Clinical features

From HPO

Mild global developmental delay

MedGen UID:: 861405
•Concept ID:: C4012968
•: Finding

A mild delay in the achievement of motor or mental milestones in the domains of development of a child.

See: Feature record | Search on this feature

Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

See: Feature record | Search on this feature

Abnormality of chromosome stability

MedGen UID:: 1631925
•Concept ID:: C4551705
•: Cell or Molecular Dysfunction

A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.

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Abnormal cellular phenotype
- Abnormality of chromosome stability
Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system
- Mild global developmental delay

Recent clinical studies

Etiology

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.

Feng B, Chang G, Zhang Q, Li X, Tang Y, Gu S, Wang Y, Wang J, Wang X
Mol Genet Genomic Med 2022 Jun;10(6):e1951. Epub 2022 Apr 17 doi: 10.1002/mgg3.1951. PMID: 35434947 Free PMC Article

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M
Mol Genet Genomic Med 2020 Mar;8(3):e1064. Epub 2020 Jan 14 doi: 10.1002/mgg3.1064. PMID: 31943948 Free PMC Article

A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.

Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY
Ann Clin Lab Sci 2015 Winter;45(1):106-9. PMID: 25696020

Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915

The detection of mosaicism by prenatal BoBs™.

Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW
Prenat Diagn 2013 Jan;33(1):42-9. Epub 2012 Nov 20 doi: 10.1002/pd.4006. PMID: 23168997

See all (9)

Diagnosis

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.

Hook EB, Warburton D
Hum Genet 2014 Apr;133(4):417-24. Epub 2014 Jan 30 doi: 10.1007/s00439-014-1420-x. PMID: 24477775

Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.

Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS
PLoS One 2013;8(3):e59823. Epub 2013 Mar 22 doi: 10.1371/journal.pone.0059823. PMID: 23533652 Free PMC Article

Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915

The detection of mosaicism by prenatal BoBs™.

Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW
Prenat Diagn 2013 Jan;33(1):42-9. Epub 2012 Nov 20 doi: 10.1002/pd.4006. PMID: 23168997

See all (8)

Therapy

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans.

Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK
Hum Reprod Update 2014 Jul-Aug;20(4):571-81. Epub 2014 Mar 25 doi: 10.1093/humupd/dmu016. PMID: 24667481

Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915

See all (2)

Prognosis

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N
Clin Genet 2023 Apr;103(4):478-483. Epub 2023 Jan 23 doi: 10.1111/cge.14297. PMID: 36635612

Identification of genuine primary pulmonary NK cell lymphoma via clinicopathologic observation and clonality assay.

Gong L, Wei LX, Huang GS, Zhang WD, Wang L, Zhu SJ, Han XJ, Yao L, Lan M, Li YH, Zhang W
Diagn Pathol 2013 Aug 19;8:140. doi: 10.1186/1746-1596-8-140. PMID: 23958352 Free PMC Article

Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.

Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915

See all (4)

Clinical prediction guides

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N
Clin Genet 2023 Apr;103(4):478-483. Epub 2023 Jan 23 doi: 10.1111/cge.14297. PMID: 36635612

Identification of genuine primary pulmonary NK cell lymphoma via clinicopathologic observation and clonality assay.

Gong L, Wei LX, Huang GS, Zhang WD, Wang L, Zhu SJ, Han XJ, Yao L, Lan M, Li YH, Zhang W
Diagn Pathol 2013 Aug 19;8:140. doi: 10.1186/1746-1596-8-140. PMID: 23958352 Free PMC Article

Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.

Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E
Prenat Diagn 2013 Mar;33(3):251-6. Epub 2013 Jan 27 doi: 10.1002/pd.4054. PMID: 23354915

Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Liao J, Sathanoori M, Yatsenko SA, Hu J, Kochmar SJ, Hoffner L, Hogge WA, Surti U
Prenat Diagn 2012 Dec;32(12):1166-9. Epub 2012 Sep 26 doi: 10.1002/pd.3977. PMID: 23015528

See all (5)

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Mosaic variegated aneuploidy syndrome 4(MVA4)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Molecular resources

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