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Joubert syndrome 7(JBTS7)

MedGen UID:
369401
Concept ID:
C1969053
Disease or Syndrome
Synonyms: JBTS7; RPGRIP1L-Related Joubert Syndrome
 
Gene (location): RPGRIP1L (16q12.2)
 
Monarch Initiative: MONDO:0012694
OMIM®: 611560

Disease characteristics

Excerpted from the GeneReview: Joubert Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]
Authors:
Melissa Parisi  |  Ian Glass   view full author information

Clinical features

From HPO
Nephronophthisis
MedGen UID:
146912
Concept ID:
C0687120
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Postaxial polydactyly
MedGen UID:
67394
Concept ID:
C0220697
Disease or Syndrome
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the FAM98A gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Abnormal corpus callosum morphology
MedGen UID:
334198
Concept ID:
C1842581
Anatomical Abnormality
Abnormality of the corpus callosum.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Brainstem dysplasia
MedGen UID:
383739
Concept ID:
C1855677
Congenital Abnormality
A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.
Molar tooth sign on MRI
MedGen UID:
400670
Concept ID:
C1865060
Finding
An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Encephalocele
MedGen UID:
1646412
Concept ID:
C4551722
Congenital Abnormality
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Tachypnea
MedGen UID:
66669
Concept ID:
C0231835
Finding
Very rapid breathing.
Neonatal breathing dysregulation
MedGen UID:
812546
Concept ID:
C3806216
Finding
Episodic tachypnea
MedGen UID:
812548
Concept ID:
C3806218
Finding
Episodes of very rapid breathing.
Central apnea
MedGen UID:
854403
Concept ID:
C3887548
Disease or Syndrome
Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

Professional guidelines

PubMed

Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469

Recent clinical studies

Etiology

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group
Neurology 2020 Feb 25;94(8):e797-e801. Epub 2020 Jan 22 doi: 10.1212/WNL.0000000000008996. PMID: 31969461Free PMC Article
Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D
Am J Med Genet A 2017 May;173(5):1237-1242. Epub 2017 Mar 28 doi: 10.1002/ajmg.a.38158. PMID: 28371402
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S
Nat Genet 2007 Jul;39(7):875-81. Epub 2007 Jun 10 doi: 10.1038/ng2039. PMID: 17558409

Diagnosis

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group
Neurology 2020 Feb 25;94(8):e797-e801. Epub 2020 Jan 22 doi: 10.1212/WNL.0000000000008996. PMID: 31969461Free PMC Article
Yates JF, Troester MM, Ingram DG
Curr Neurol Neurosci Rep 2018 May 23;18(7):38. doi: 10.1007/s11910-018-0850-6. PMID: 29789951

Therapy

Chen L, Uchida H, Komine R, Kodama T, Nakao T, Okada N, Yanagi Y, Shimizu S, Abbas S, Fukuda A, Sakamoto S, Kasahara M
Pediatr Transplant 2024 Feb;28(1):e14640. Epub 2023 Nov 15 doi: 10.1111/petr.14640. PMID: 37965976
Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA
Mol Genet Genomic Med 2021 Dec;9(12):e1603. Epub 2021 Jan 24 doi: 10.1002/mgg3.1603. PMID: 33486889Free PMC Article
Seo H, Kwon EJ, You YA, Park Y, Min BJ, Yoo K, Hwang HS, Kim JH, Kim YJ
BMC Med Genomics 2018 Jan 24;11(1):4. doi: 10.1186/s12920-018-0323-4. PMID: 29368655Free PMC Article
Lee SH, Nam TS, Li W, Kim JH, Yoon W, Choi YD, Kim KH, Cai H, Kim MJ, Kim C, Choy HE, Kim N, Chay KO, Kim MK, Choi SY
Sci Rep 2017 Aug 31;7(1):10222. doi: 10.1038/s41598-017-10652-z. PMID: 28860541Free PMC Article
Saleem SN, Zaki MS
AJNR Am J Neuroradiol 2010 Mar;31(3):424-9. Epub 2009 Nov 26 doi: 10.3174/ajnr.A1867. PMID: 19942698Free PMC Article

Prognosis

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Zhu L, Xie L
Medicine (Baltimore) 2017 Dec;96(51):e8626. doi: 10.1097/MD.0000000000008626. PMID: 29390414Free PMC Article
Musiime GM, Kinuthia DMW, Oyatsi DP, Manguyu W
BMC Res Notes 2017 Dec 6;10(1):696. doi: 10.1186/s13104-017-3033-7. PMID: 29208045Free PMC Article
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. PMID: 25407461Free PMC Article
Steinlin M
Cerebellum 2008;7(4):607-10. Epub 2008 Dec 5 doi: 10.1007/s12311-008-0083-3. PMID: 19057977

Clinical prediction guides

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
Yates JF, Troester MM, Ingram DG
Curr Neurol Neurosci Rep 2018 May 23;18(7):38. doi: 10.1007/s11910-018-0850-6. PMID: 29789951

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