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Chromosome 15q13.3 microdeletion syndrome

MedGen UID:
393784
Concept ID:
C2677613
Congenital Abnormality
Synonyms: 15q13.3 Microdeletion; 15q13.3 microdeletion syndrome; CHROMOSOME 15q13.3 DELETION SYNDROME
SNOMED CT: 15q13.3 deletion syndrome (699254009); 15q13.3 microdeletion (699254009); Microdeletion of chromosome 15q13.3 (699254009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): CHRNA7 (15q13.3); KLF13 (15q13.3)
 
Monarch Initiative: MONDO:0012774
OMIM®: 612001
Orphanet: ORPHA199318

Disease characteristics

Excerpted from the GeneReview: 15q13.3 Recurrent Deletion
Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. A little over half of individuals diagnosed with this recurrent deletion have intellectual disability or developmental delay, mainly in the areas of speech acquisition and cognitive function. In the majority of individuals, cognitive impairment is mild. Other features reported in diagnosed individuals include epilepsy (in ~30%), mild hypotonia, and neuropsychiatric disorders (including autism spectrum disorder, attention-deficit/hyperactivity disorder, mood disorder, schizophrenia, and aggressive or self-injurious behavior). Congenital malformations are uncommon. [from GeneReviews]
Authors:
Bregje WM van Bon  |  Heather C Mefford  |  Bert BA de Vries, et. al.   view full author information

Additional descriptions

From OMIM
Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).  http://www.omim.org/entry/612001
From MedlinePlus Genetics
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.

About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy.

15q13.3 microdeletion has also been associated with behavioral problems, including a short attention span, aggression, impulsive behavior, and hyperactivity. Some people with a 15q13.3 microdeletion have been diagnosed with developmental disorders that affect communication and social interaction (autism spectrum disorders). This chromosomal change may also be associated with an increased risk of psychiatric disorders, particularly schizophrenia. Other signs and symptoms of 15q13.3 microdeletion can include heart defects, minor abnormalities involving the hands and arms, and subtle differences in facial features.

Some people with a 15q13.3 microdeletion do not have any of the intellectual, behavioral, or physical features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have an affected relative. It is unknown why a 15q13.3 microdeletion causes cognitive and behavioral problems in some individuals but few or no health problems in others.  https://medlineplus.gov/genetics/condition/15q133-microdeletion

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Abnormality of the palpebral fissures
MedGen UID:
870308
Concept ID:
C4024750
Anatomical Abnormality
An anomaly of the space between the medial and lateral canthi of the two open eyelids.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 15q13.3 microdeletion syndrome
Follow this link to review classifications for Chromosome 15q13.3 microdeletion syndrome in Orphanet.

Professional guidelines

PubMed

Tropeano M, Andrieux J, Vassos E, Collier DA
Eur J Hum Genet 2014 Nov;22(11):1338. Epub 2014 May 14 doi: 10.1038/ejhg.2014.88. PMID: 24824131Free PMC Article

Suggested Reading

PubMed

Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS
Genet Med 2015 Feb;17(2):149-57. Epub 2014 Jul 31 doi: 10.1038/gim.2014.83. PMID: 25077648Free PMC Article

Recent clinical studies

Etiology

Whitney R, Nair A, McCready E, Keller AE, Adil IS, Aziz AS, Borys O, Siu K, Shah C, Meaney BF, Jones K, RamachandranNair R
Seizure 2021 Nov;92:221-229. Epub 2021 Sep 26 doi: 10.1016/j.seizure.2021.09.016. PMID: 34601452
Rees KA, Halawa AA, Consuegra-Garcia D, Golub VM, Clossen BL, Tan AM, Montgomery KS, Samba Reddy D, Griffith WH, Winzer-Serhan UH
Brain Res 2020 Nov 1;1746:147024. Epub 2020 Jul 23 doi: 10.1016/j.brainres.2020.147024. PMID: 32712126
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK
Am J Hum Genet 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. PMID: 29395074Free PMC Article
Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS
Genet Med 2015 Feb;17(2):149-57. Epub 2014 Jul 31 doi: 10.1038/gim.2014.83. PMID: 25077648Free PMC Article
Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I
Epilepsy Res 2014 Jan;108(1):109-16. Epub 2013 Oct 26 doi: 10.1016/j.eplepsyres.2013.10.001. PMID: 24246141

Diagnosis

Whitney R, Nair A, McCready E, Keller AE, Adil IS, Aziz AS, Borys O, Siu K, Shah C, Meaney BF, Jones K, RamachandranNair R
Seizure 2021 Nov;92:221-229. Epub 2021 Sep 26 doi: 10.1016/j.seizure.2021.09.016. PMID: 34601452
Zhang S, Zhang X, Purmann C, Ma S, Shrestha A, Davis KN, Ho M, Huang Y, Pattni R, Wong WH, Bernstein JA, Hallmayer J, Urban AE
Biol Psychiatry 2021 Mar 1;89(5):497-509. Epub 2020 Jul 1 doi: 10.1016/j.biopsych.2020.06.021. PMID: 32919612Free PMC Article
Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS
Genet Med 2015 Feb;17(2):149-57. Epub 2014 Jul 31 doi: 10.1038/gim.2014.83. PMID: 25077648Free PMC Article
Prasun P, Hankerd M, Kristofice M, Scussel L, Sivaswamy L, Ebrahim S
Am J Med Genet A 2014 Jul;164A(7):1815-20. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36535. PMID: 24700535
Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I
Epilepsy Res 2014 Jan;108(1):109-16. Epub 2013 Oct 26 doi: 10.1016/j.eplepsyres.2013.10.001. PMID: 24246141

Therapy

Casas-Alba D, Nolasco GA, Díez-Juan M, Mezzatesta M, Balañá G, Fons C
Am J Med Genet A 2021 Dec;185(12):3897-3899. Epub 2021 Jul 17 doi: 10.1002/ajmg.a.62425. PMID: 34272916
Deutsch SI, Burket JA, Benson AD, Urbano MR
Prog Neuropsychopharmacol Biol Psychiatry 2016 Jan 4;64:109-17. Epub 2015 Aug 7 doi: 10.1016/j.pnpbp.2015.08.001. PMID: 26257138
Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA
Clinics (Sao Paulo) 2012 Aug;67(8):917-21. doi: 10.6061/clinics/2012(08)11. PMID: 22948460Free PMC Article

Prognosis

Furukawa S, Kushima I, Aleksic B, Ozaki N
Neuropsychopharmacol Rep 2023 Sep;43(3):462-466. Epub 2023 Jun 1 doi: 10.1002/npr2.12340. PMID: 37264739Free PMC Article
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A
Clin Genet 2020 Apr;97(4):567-575. Epub 2020 Feb 11 doi: 10.1111/cge.13709. PMID: 31997314
Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M
Am J Med Genet A 2013 Oct;161A(10):2582-7. Epub 2013 Aug 8 doi: 10.1002/ajmg.a.36085. PMID: 23929658
McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA
Clinics (Sao Paulo) 2012 Aug;67(8):917-21. doi: 10.6061/clinics/2012(08)11. PMID: 22948460Free PMC Article

Clinical prediction guides

Whitney R, Nair A, McCready E, Keller AE, Adil IS, Aziz AS, Borys O, Siu K, Shah C, Meaney BF, Jones K, RamachandranNair R
Seizure 2021 Nov;92:221-229. Epub 2021 Sep 26 doi: 10.1016/j.seizure.2021.09.016. PMID: 34601452
Özaltun MF, Geyik S, Yılmaz ŞG
Curr Issues Mol Biol 2021 Sep 7;43(2):1090-1113. doi: 10.3390/cimb43020078. PMID: 34563047Free PMC Article
Zhang S, Zhang X, Purmann C, Ma S, Shrestha A, Davis KN, Ho M, Huang Y, Pattni R, Wong WH, Bernstein JA, Hallmayer J, Urban AE
Biol Psychiatry 2021 Mar 1;89(5):497-509. Epub 2020 Jul 1 doi: 10.1016/j.biopsych.2020.06.021. PMID: 32919612Free PMC Article
Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP
Genet Med 2016 Nov;18(11):1111-1118. Epub 2016 Mar 10 doi: 10.1038/gim.2016.9. PMID: 26963284
Fejgin K, Nielsen J, Birknow MR, Bastlund JF, Nielsen V, Lauridsen JB, Stefansson H, Steinberg S, Sorensen HB, Mortensen TE, Larsen PH, Klewe IV, Rasmussen SV, Stefansson K, Werge TM, Kallunki P, Christensen KV, Didriksen M
Biol Psychiatry 2014 Jul 15;76(2):128-37. Epub 2013 Oct 3 doi: 10.1016/j.biopsych.2013.08.014. PMID: 24090792

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