JBTS28
MCID: JBR039
MIFTS: 26

Joubert Syndrome 28 (JBTS28)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 28

MalaCards integrated aliases for Joubert Syndrome 28:

Name: Joubert Syndrome 28 57 12 72 29 6
Jbts28 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated september 2016)


HPO:

31
joubert syndrome 28:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset fetal onset


Classifications:



Summaries for Joubert Syndrome 28

UniProtKB/Swiss-Prot : 72 Joubert syndrome 28: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 28, is also known as jbts28. An important gene associated with Joubert Syndrome 28 is MKS1 (MKS Transition Zone Complex Subunit 1). Related phenotypes are nystagmus and ataxia

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.

More information from OMIM: 617121 PS213300

Symptoms & Phenotypes for Joubert Syndrome 28

Human phenotypes related to Joubert Syndrome 28:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 ataxia 31 very rare (1%) HP:0001251
3 global developmental delay 31 very rare (1%) HP:0001263
4 hypertelorism 31 very rare (1%) HP:0000316
5 wide nasal bridge 31 very rare (1%) HP:0000431
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 strabismus 31 very rare (1%) HP:0000486
8 joint laxity 31 very rare (1%) HP:0001388
9 highly arched eyebrow 31 very rare (1%) HP:0002553
10 broad forehead 31 very rare (1%) HP:0000337
11 optic disc pallor 31 very rare (1%) HP:0000543
12 molar tooth sign on mri 31 very rare (1%) HP:0002419
13 oculomotor apraxia 31 very rare (1%) HP:0000657
14 pigmentary retinopathy 31 very rare (1%) HP:0000580
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 lower limb hyperreflexia 31 very rare (1%) HP:0002395
17 intellectual disability 31 HP:0001249
18 dysarthria 31 HP:0001260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
oculomotor apraxia
retinopathy (1 patient)

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
ataxia
delayed development
molar tooth sign seen on mri
intellectual disability (in 1 patient)

Clinical features from OMIM®:

617121 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 28

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 28

Genetic Tests for Joubert Syndrome 28

Genetic tests related to Joubert Syndrome 28:

# Genetic test Affiliating Genes
1 Joubert Syndrome 28 29 MKS1

Anatomical Context for Joubert Syndrome 28

Publications for Joubert Syndrome 28

Articles related to Joubert Syndrome 28:

# Title Authors PMID Year
1
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 57 6
24886560 2014
2
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 6
27570071 2016
3
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 6
26490104 2016
4
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015
5
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 6
23351400 2012
6
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
7
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 6
17437276 2007
8
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 6
17377820 2007
9
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 6
17397051 2007
10
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 6
16415886 2006

Variations for Joubert Syndrome 28

ClinVar genetic disease variations for Joubert Syndrome 28:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MKS1 NM_001165927.1(MKS1):c.1558+1G>T SNV Pathogenic 254677 rs886038204 GRCh37: 17:56283643-56283643
GRCh38: 17:58206282-58206282
2 MKS1 NM_001165927.1(MKS1):c.1461-2A>G SNV Pathogenic 254675 rs886038203 GRCh37: 17:56283743-56283743
GRCh38: 17:58206382-58206382
3 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) Deletion Pathogenic 217677 rs754279998 GRCh37: 17:56285514-56285516
GRCh38: 17:58208153-58208155
4 MKS1 NM_001165927.1(MKS1):c.1378-34_1378-6del Deletion Pathogenic 188400 rs386834043 GRCh37: 17:56283914-56283942
GRCh38: 17:58206553-58206581
5 MKS1 NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) Duplication Likely pathogenic 56617 rs386834044 GRCh37: 17:56283862-56283863
GRCh38: 17:58206501-58206502
6 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) Deletion Likely pathogenic 217677 rs754279998 GRCh37: 17:56285514-56285516
GRCh38: 17:58208153-58208155
7 MKS1 NM_001165927.1(MKS1):c.994+1G>A SNV Likely pathogenic 1391 rs199874059 GRCh37: 17:56288019-56288019
GRCh38: 17:58210658-58210658
8 MKS1 NM_001165927.1(MKS1):c.995-2A>C SNV Likely pathogenic 194102 rs794727070 GRCh37: 17:56285946-56285946
GRCh38: 17:58208585-58208585
9 MKS1 NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs) Deletion Likely pathogenic 557671 rs1555596845 GRCh37: 17:56283854-56283882
GRCh38: 17:58206493-58206521
10 MKS1 NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) Deletion Likely pathogenic 56619 rs386834046 GRCh37: 17:56295981-56295987
GRCh38: 17:58218620-58218626
11 MKS1 NM_001165927.1(MKS1):c.50+232A>G SNV Likely pathogenic 558654 rs1555601787 GRCh37: 17:56296591-56296591
GRCh38: 17:58219230-58219230
12 MKS1 NM_001165927.1(MKS1):c.337dup (p.Arg113fs) Duplication Likely pathogenic 371770 rs775043799 GRCh37: 17:56293498-56293499
GRCh38: 17:58216137-58216138
13 MKS1 NM_001165927.1(MKS1):c.1364del (p.Pro455fs) Deletion Likely pathogenic 371771 rs865870355 GRCh37: 17:56284459-56284459
GRCh38: 17:58207098-58207098
14 MKS1 NM_001165927.1(MKS1):c.50+313T>C SNV Likely pathogenic 1390 rs386834052 GRCh37: 17:56296510-56296510
GRCh38: 17:58219149-58219149
15 MKS1 NM_001165927.1(MKS1):c.160+2T>C SNV Likely pathogenic 550954 rs375170572 GRCh37: 17:56295979-56295979
GRCh38: 17:58218618-58218618
16 MKS1 NM_017777.4(MKS1):c.417G>A (p.Glu139=) SNV Likely pathogenic 1392 rs386834048 GRCh37: 17:56293449-56293449
GRCh38: 17:58216088-58216088
17 MKS1 NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) SNV Likely pathogenic 235405 rs756853299 GRCh37: 17:56292109-56292109
GRCh38: 17:58214748-58214748
18 MKS1 NM_001165927.1(MKS1):c.485+2T>G SNV Likely pathogenic 553842 rs1376664664 GRCh37: 17:56292100-56292100
GRCh38: 17:58214739-58214739
19 MKS1 NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) SNV Likely pathogenic 554581 rs1555599412 GRCh37: 17:56290372-56290372
GRCh38: 17:58213011-58213011
20 MKS1 NM_001165927.1(MKS1):c.485+1G>A SNV Likely pathogenic 56624 rs201933838 GRCh37: 17:56292101-56292101
GRCh38: 17:58214740-58214740
21 MKS1 NM_001165927.1(MKS1):c.828+1G>A SNV Likely pathogenic 556312 rs756102768 GRCh37: 17:56290342-56290342
GRCh38: 17:58212981-58212981
22 MKS1 NM_001165927.1(MKS1):c.1378-2A>G SNV Likely pathogenic 556614 rs1555596943 GRCh37: 17:56283910-56283910
GRCh38: 17:58206549-58206549
23 MKS1 NM_001165927.1(MKS1):c.50+282_50+286dup Duplication Likely pathogenic 56625 rs386834051 GRCh37: 17:56296536-56296537
GRCh38: 17:58219175-58219176
24 MKS1 NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) SNV Likely pathogenic 211503 rs797045706 GRCh37: 17:56290357-56290357
GRCh38: 17:58212996-58212996
25 MKS1 NM_001165927.1(MKS1):c.1136-2A>G SNV Likely pathogenic 556907 rs1488635637 GRCh37: 17:56285364-56285364
GRCh38: 17:58208003-58208003
26 MKS1 NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) SNV Uncertain significance 126271 rs587779734 GRCh37: 17:56296061-56296061
GRCh38: 17:58218700-58218700
27 MKS1 NM_001165927.1(MKS1):c.1467del (p.Phe489fs) Deletion Uncertain significance 555641 rs780161503 GRCh37: 17:56283735-56283735
GRCh38: 17:58206374-58206374
28 MKS1 NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup) Microsatellite Uncertain significance 555649 rs780100856 GRCh37: 17:56290366-56290367
GRCh38: 17:58213005-58213006
29 MKS1 NM_001165927.1(MKS1):c.1584del (p.Met529fs) Deletion Uncertain significance 554941 rs1555596555 GRCh37: 17:56283506-56283506
GRCh38: 17:58206145-58206145
30 MKS1 NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT Indel Uncertain significance 555057 rs1555597194 GRCh37: 17:56284441-56284443
GRCh38: 17:58207080-58207082
31 MKS1 NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) SNV Uncertain significance 554287 rs772719574 GRCh37: 17:56283520-56283520
GRCh38: 17:58206159-58206159
32 MKS1 NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) SNV Uncertain significance 324168 rs753620277 GRCh37: 17:56294074-56294074
GRCh38: 17:58216713-58216713
33 MKS1 NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del) Microsatellite Uncertain significance 551726 rs1555598065 GRCh37: 17:56285888-56285890
GRCh38: 17:58208527-58208529
34 MKS1 NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs) Deletion Uncertain significance 551955 rs1555596710 GRCh37: 17:56283698-56283701
GRCh38: 17:58206337-58206340
35 MKS1 NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal) Deletion Uncertain significance 552912 rs1555597266 GRCh37: 17:56284508-56284522
GRCh38: 17:58207147-58207161
36 MKS1 NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter) SNV Uncertain significance 551006 rs1555596538 GRCh37: 17:56283499-56283499
GRCh38: 17:58206138-58206138
37 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) SNV Uncertain significance 1393 rs137853105 GRCh37: 17:56283840-56283840
GRCh38: 17:58206479-58206479
38 MKS1 NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) SNV Uncertain significance 219658 rs763534380 GRCh37: 17:56285353-56285353
GRCh38: 17:58207992-58207992
39 MKS1 NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) SNV Uncertain significance 324158 rs775558298 GRCh37: 17:56283689-56283689
GRCh38: 17:58206328-58206328
40 MKS1 NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) SNV Uncertain significance 188334 rs786204222 GRCh37: 17:56294055-56294055
GRCh38: 17:58216694-58216694
41 MKS1 NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) SNV Uncertain significance 220047 rs35464956 GRCh37: 17:56283511-56283511
GRCh38: 17:58206150-58206150
42 MKS1 NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) SNV Uncertain significance 260879 rs745809472 GRCh37: 17:56285906-56285906
GRCh38: 17:58208545-58208545
43 MKS1 NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) SNV Uncertain significance 217682 rs779953982 GRCh37: 17:56292124-56292124
GRCh38: 17:58214763-58214763
44 MKS1 NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile) SNV Uncertain significance 558281 rs760184188 GRCh37: 17:56285260-56285260
GRCh38: 17:58207899-58207899
45 MKS1 NM_001165927.1(MKS1):c.50+198_50+220del Deletion Uncertain significance 557821 rs1244307754 GRCh37: 17:56296603-56296625
GRCh38: 17:58219242-58219264
46 MKS1 NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del) Deletion Uncertain significance 556256 rs1555597302 GRCh37: 17:56284539-56284565
GRCh38: 17:58207178-58207204
47 MKS1 NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) SNV Uncertain significance 183011 rs730882120 GRCh37: 17:56284471-56284471
GRCh38: 17:58207110-58207110
48 MKS1 NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) SNV Uncertain significance 241188 rs200185068 GRCh37: 17:56291720-56291720
GRCh38: 17:58214359-58214359
49 MKS1 NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) SNV Uncertain significance 235814 rs202112856 GRCh37: 17:56293498-56293498
GRCh38: 17:58216137-58216137
50 MKS1 NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) SNV Uncertain significance 281544 rs199832333 GRCh37: 17:56296053-56296053
GRCh38: 17:58218692-58218692

Expression for Joubert Syndrome 28

Search GEO for disease gene expression data for Joubert Syndrome 28.

Pathways for Joubert Syndrome 28

GO Terms for Joubert Syndrome 28

Sources for Joubert Syndrome 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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