MCID: CHR581
MIFTS: 29

Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Categories: Neuronal diseases
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Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Name: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 57
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 57 28 5
Nf1 Microdeletion Syndrome 57 71
Neurofibromatosis 1 Microdeletion Syndrome 57
Van Asperen Syndrome 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
contiguous gene deletion syndrome
patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations


Classifications:



Summaries for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

OMIM®: 57 Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003). (613675) (Updated 08-Dec-2022)

MalaCards based summary: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb, also known as chromosome 17q11.2 deletion syndrome, 1.4mb, is related to chromosome 17q11.2 deletion syndrome and neurofibromatosis, type i. An important gene associated with Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include heart, bone and brain, and related phenotypes are macrocephaly and intellectual disability

Related Diseases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Graphical network of the top 20 diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:



Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 Very rare (1%) HP:0000256
2 intellectual disability 30 Very rare (1%) HP:0001249
3 seizure 30 Very rare (1%) HP:0001250
4 scoliosis 30 Very rare (1%) HP:0002650
5 hypotonia 30 Very rare (1%) HP:0001252
6 coarse facial features 30 Very rare (1%) HP:0000280
7 hearing impairment 30 Very rare (1%) HP:0000365
8 global developmental delay 30 Very rare (1%) HP:0001263
9 hypertelorism 30 Very rare (1%) HP:0000316
10 delayed speech and language development 30 Very rare (1%) HP:0000750
11 cognitive impairment 30 Very rare (1%) HP:0100543
12 strabismus 30 Very rare (1%) HP:0000486
13 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
14 low-set ears 30 Very rare (1%) HP:0000369
15 broad neck 30 Very rare (1%) HP:0000475
16 specific learning disability 30 Very rare (1%) HP:0001328
17 pectus excavatum 30 Very rare (1%) HP:0000767
18 joint hypermobility 30 Very rare (1%) HP:0001382
19 facial asymmetry 30 Very rare (1%) HP:0000324
20 pes cavus 30 Very rare (1%) HP:0001761
21 tall stature 30 Very rare (1%) HP:0000098
22 plexiform neurofibroma 30 Very rare (1%) HP:0009732
23 lisch nodules 30 Very rare (1%) HP:0009737
24 spinal neurofibromas 30 Very rare (1%) HP:0009735
25 bone cyst 30 Very rare (1%) HP:0012062
26 large hands 30 Very rare (1%) HP:0001176
27 abnormality of cardiovascular system morphology 30 Very rare (1%) HP:0030680
28 cafe-au-lait spot 30 Very rare (1%) HP:0000957
29 long foot 30 Very rare (1%) HP:0001833
30 neurofibrosarcoma 30 Very rare (1%) HP:0100697
31 subcutaneous neurofibromas 30 Very rare (1%) HP:0100698
32 focal t2 hyperintense basal ganglia lesion 30 Very rare (1%) HP:0007183
33 axillary freckling 30 Very rare (1%) HP:0000997
34 optic nerve glioma 30 Very rare (1%) HP:0009734
35 abnormal heart morphology 30 HP:0001627
36 neurofibromas 30 HP:0001067
37 generalized hypotonia 30 HP:0001290
38 overgrowth 30 HP:0001548
39 inguinal freckling 30 HP:0030052

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

Skin Nails Hair Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (31%)

Head And Neck Head:
macrocephaly (39%)

Skeletal:
bone cysts (50%)
increased joint laxity (72%)

Skeletal Hands:
large hands (46%)
accelerated carpal bone age

Muscle Soft Tissue:
hypotonia (45%)
soft fleshy palms (50%)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit hyperactivity disorder (33%)
attention difficulties (73%)

Head And Neck Face:
facial asymmetry
coarse facies
facial dysmorphism (in up to 90%)

Growth Other:
generalized overgrowth

Growth Height:
tall stature (46%)

Cardiovascular Heart:
congenital heart defects (21%)

Skeletal Spine:
scoliosis (43%)

Skeletal Feet:
large feet (46%)
pes cavus (17%)

Neurologic Central Nervous System:
delayed cognitive development/learning disabilities (93%)
mental retardation (38%)
speech difficulties (48%)
spinal neurofibromas (64%)
brain mri shows t2-weighted hyperintensities (17%)

Neoplasia:
optic glioma (19%)
malignant peripheral nerve sheath tumors (21%)

Clinical features from OMIM®:

613675 (Updated 08-Dec-2022)

Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search Clinical Trials, NIH Clinical Center for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic Tests for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

# Genetic test Affiliating Genes
1 Chromosome 17q11.2 Deletion Syndrome, 1.4mb 28

Anatomical Context for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Organs/tissues related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

MalaCards : Heart, Bone, Brain

Publications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

(show all 50)
# Title Authors PMID Year
1
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. 62 57
24711647 2014
2
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. 62 57
15676286 2005
3
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. 62 57
10631140 2000
4
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. 57
30665703 2019
5
Prevalence and architecture of de novo mutations in developmental disorders. 57
28135719 2017
6
Analysis of protein-coding genetic variation in 60,706 humans. 57
27535533 2016
7
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. 57
20725927 2010
8
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. 57
20543202 2010
9
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. 57
17999360 2007
10
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. 57
17632510 2007
11
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. 57
15257518 2004
12
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. 57
14729829 2004
13
Elevated risk for MPNST in NF1 microdeletion patients. 57
12660952 2003
14
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. 57
11468690 2001
15
Recombination hotspot in NF1 microdeletion patients. 57
11440991 2001
16
Unequal meiotic crossover: a frequent cause of NF1 microdeletions. 57
10775528 2000
17
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. 57
10587576 2000
18
Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes. 57
10713891 2000
19
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. 57
10528240 1999
20
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. 57
9643287 1998
21
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. 57
9654211 1998
22
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. 57
9598729 1998
23
Do NF1 gene deletions result in a characteristic phenotype? 57
9375928 1997
24
Deletion of the entire NF1 gene causing distinct manifestations in a family. 57
9066892 1997
25
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. 57
9048923 1997
26
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? 57
9143927 1997
27
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. 57
8931693 1996
28
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. 57
8929953 1996
29
Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. 57
8585580 1995
30
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. 57
8116612 1994
31
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease. 62
35246941 2022
32
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. 62
34535841 2021
33
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome. 62
33722742 2021
34
NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1. 62
32566957 2020
35
NF1 microdeletion syndrome: case report of two new patients. 62
31703719 2019
36
Rare NF1 microdeletion syndrome in an Omani patient. 62
30564341 2018
37
Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly. 62
29215515 2018
38
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. 62
28776093 2017
39
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. 62
28605748 2017
40
[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion]. 62
27060318 2016
41
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. 62
27247625 2016
42
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. 62
22241097 2012
43
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. 62
22151963 2011
44
Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. 62
21221781 2011
45
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? 62
18183042 2008
46
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. 62
17380155 2007
47
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. 62
16467218 2006
48
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. 62
16138909 2005
49
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. 62
15103551 2004
50
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. 62
11479735 2001

Variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

ClinVar genetic disease variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 14 genes GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1 CN LOSS Pathogenic
666441 GRCh37: 17:28941066-30326958
GRCh38:
2 overlap with 15 genes GRCh37/hg19 17q11.2(chr17:28993036-30412788) CN LOSS Pathogenic
1703547 GRCh37: 17:28993036-30412788
GRCh38:
3 RNF135 NM_032322.4(RNF135):c.575C>T (p.Thr192Ile) SNV Uncertain Significance
1032948 rs1907708509 GRCh37: 17:29315020-29315020
GRCh38: 17:30988002-30988002

Copy number variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 109502 17 26446120 26728821 Microdeletion NF1 NF1 microdeletion syndrome

Expression for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search GEO for disease gene expression data for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb.

Pathways for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

GO Terms for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Sources for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

2 CDC
6 CNVD
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30 HPO
31 ICD10
32 ICD10 via Orphanet
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44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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