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Intellectual disability, autosomal recessive 23(MRT23)

MedGen UID:
482172
•Concept ID:
C3280542
•
Mental or Behavioral Dysfunction
Synonym: MRT23
 
Monarch Initiative: MONDO:0013706
OMIM®: 614344

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M
Int J Mol Sci 2024 Jan 17;25(2) doi: 10.3390/ijms25021146. PMID: 38256219Free PMC Article

Recent clinical studies

Etiology

Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
Nazmina G, Khan A, Jiang J, Miao Z, Khan SN, Khan MI, Shah AH, Shah AH, Khisroon M, Haack TB
Clin Genet 2024 Apr;105(4):423-429. Epub 2023 Dec 13 doi: 10.1111/cge.14469. PMID: 38088234
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD
Indian J Pediatr 2024 Jul;91(7):682-695. Epub 2023 Oct 7 doi: 10.1007/s12098-023-04820-5. PMID: 37804371
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P
Eur J Med Genet 2013 Oct;56(10):570-6. Epub 2013 Aug 27 doi: 10.1016/j.ejmg.2013.08.004. PMID: 23994350
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ, Irons MB
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):250-62. Epub 2012 Oct 11 doi: 10.1002/ajmg.c.31343. PMID: 23059950
The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147

Diagnosis

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP
Mol Psychiatry 2024 Apr;29(4):974-981. Epub 2024 Jan 11 doi: 10.1038/s41380-023-02385-5. PMID: 38200289Free PMC Article
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD
Indian J Pediatr 2024 Jul;91(7):682-695. Epub 2023 Oct 7 doi: 10.1007/s12098-023-04820-5. PMID: 37804371
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
Inamori KI, Inokuchi JI
Int J Mol Sci 2022 May 11;23(10) doi: 10.3390/ijms23105368. PMID: 35628171Free PMC Article
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.
Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937Free PMC Article

Therapy

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Lessard I, Côté I, St-Gelais R, Hébert LJ, Brais B, Mathieu J, Rodrigue X, Gagnon C
Cerebellum 2024 Apr;23(2):489-501. Epub 2023 Apr 27 doi: 10.1007/s12311-023-01558-w. PMID: 37101017
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147

Prognosis

Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Manti F, Mastrangelo M, Battini R, Carducci C, Spagnoli C, Fusco C, Tolve M, Carducci C, Leuzzi V
Parkinsonism Relat Disord 2022 Oct;103:105-111. Epub 2022 Sep 7 doi: 10.1016/j.parkreldis.2022.08.033. PMID: 36096017
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP
Int J Mol Sci 2022 Sep 1;23(17) doi: 10.3390/ijms23179979. PMID: 36077388Free PMC Article
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC
Hum Mol Genet 2014 Aug 1;23(15):4015-23. Epub 2014 Mar 13 doi: 10.1093/hmg/ddu115. PMID: 24626631Free PMC Article
The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK
Brain 2011 Dec;134(Pt 12):3502-15. Epub 2011 Nov 26 doi: 10.1093/brain/awr302. PMID: 22120147
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
Yıldırım Y, Orhan EK, Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoğlu S, Tolun A
Hum Mol Genet 2011 May 15;20(10):1886-92. Epub 2011 Feb 17 doi: 10.1093/hmg/ddr070. PMID: 21330303

Clinical prediction guides

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP
Mol Psychiatry 2024 Apr;29(4):974-981. Epub 2024 Jan 11 doi: 10.1038/s41380-023-02385-5. PMID: 38200289Free PMC Article
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD
Indian J Pediatr 2024 Jul;91(7):682-695. Epub 2023 Oct 7 doi: 10.1007/s12098-023-04820-5. PMID: 37804371
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Manti F, Mastrangelo M, Battini R, Carducci C, Spagnoli C, Fusco C, Tolve M, Carducci C, Leuzzi V
Parkinsonism Relat Disord 2022 Oct;103:105-111. Epub 2022 Sep 7 doi: 10.1016/j.parkreldis.2022.08.033. PMID: 36096017
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT
Genet Med 2019 Sep;21(9):2059-2069. Epub 2019 Mar 29 doi: 10.1038/s41436-019-0473-6. PMID: 30923367

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