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Intellectual disability, autosomal recessive 3(MRT3)

MedGen UID:: 373870
•Concept ID:: C1838023
•: Mental or Behavioral Dysfunction

Synonyms:	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3; MRT3

Gene (location): Gene(s) directly associated with this condition or phenotype.	CC2D1A (19p13.12)

Monarch Initiative:	MONDO:0012037
OMIM®:	608443

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene. [from MONDO]

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

Short attention span

MedGen UID:: 82652
•Concept ID:: C0262630
•: Finding

Reduced attention span characterized by distractibility and impulsivity.

See: Feature record | Search on this feature

Hyperactivity

MedGen UID:: 98406
•Concept ID:: C0424295
•: Finding

Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.

See: Feature record | Search on this feature

Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Incomprehensible speech

MedGen UID:: 333001
•Concept ID:: C1838027
•: Finding

See: Feature record | Search on this feature

Progressive microcephaly

MedGen UID:: 340542
•Concept ID:: C1850456
•: Anatomical Abnormality

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.

See: Feature record | Search on this feature

Hypomimic face

MedGen UID:: 208827
•Concept ID:: C0813217
•: Finding

A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.

See: Feature record | Search on this feature

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Abnormality of head or neck
- Hypomimic face
Abnormality of the musculoskeletal system
- Progressive microcephaly
Abnormality of the nervous system

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: 38256219 Free PMC Article

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V
Hum Genet 2023 Jul;142(7):909-925. Epub 2023 May 14 doi: 10.1007/s00439-023-02552-2. PMID: 37183190 Free PMC Article

Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.

Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q
Clin Nephrol 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. PMID: 35142283

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Recent clinical studies

Etiology

Prevalence of propionic acidemia in China.

Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y
Orphanet J Rare Dis 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. PMID: 37689673 Free PMC Article

First case of desmosterolosis diagnosed by prenatal whole exome sequencing.

Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H
Am J Med Genet A 2023 Mar;191(3):859-863. Epub 2022 Dec 20 doi: 10.1002/ajmg.a.63083. PMID: 36538928

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ
Schizophr Bull 2010 May;36(3):443-7. Epub 2010 Apr 26 doi: 10.1093/schbul/sbq035. PMID: 20421335 Free PMC Article

Genetics of autosomal recessive non-syndromic mental retardation: recent advances.

Basel-Vanagaite L
Clin Genet 2007 Sep;72(3):167-74. doi: 10.1111/j.1399-0004.2007.00881.x. PMID: 17718851

The neurofaciodigitorenal (NFDR) syndrome.

Freire-Maia N, Pinheiro M, Opitz JM
Am J Med Genet 1982 Mar;11(3):329-36. doi: 10.1002/ajmg.1320110309. PMID: 7081297

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Diagnosis

Autosomal Recessive Primary Microcephaly (MCPH): An Update.

Zaqout S, Morris-Rosendahl D, Kaindl AM
Neuropediatrics 2017 Jun;48(3):135-142. Epub 2017 Apr 11 doi: 10.1055/s-0037-1601448. PMID: 28399591

Genetics of human Bardet-Biedl syndrome, an updates.

Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S
Clin Genet 2016 Jul;90(1):3-15. Epub 2016 Feb 9 doi: 10.1111/cge.12737. PMID: 26762677

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ
Schizophr Bull 2010 May;36(3):443-7. Epub 2010 Apr 26 doi: 10.1093/schbul/sbq035. PMID: 20421335 Free PMC Article

The Coffin syndrome.

Fryns JP, Vinken L, Van den Berghe H
Hum Genet 1977 May 10;36(3):271-6. doi: 10.1007/BF00446276. PMID: 852873

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Therapy

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV
Clin Genet 2018 Mar;93(3):712-718. Epub 2018 Feb 5 doi: 10.1111/cge.13172. PMID: 29120065 Free PMC Article

Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.

Darrigo LG Jr, Rodrigues MC, Pieroni F, Stracieri AB, Moraes DA, Grecco CE, Dias JB, Sobral AC, Simões BP
Pediatr Transplant 2014 May;18(3):E93-5. Epub 2014 Feb 1 doi: 10.1111/petr.12230. PMID: 24483323

Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures.

Yeghiazaryan NS, Zara F, Capovilla G, Brigati G, Falsaperla R, Striano P
J Paediatr Child Health 2012 Mar;48(3):E113-5. Epub 2010 Oct 6 doi: 10.1111/j.1440-1754.2010.01866.x. PMID: 21496129

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.

Rinat C, Zoref-Shani E, Ben-Neriah Z, Bromberg Y, Becker-Cohen R, Feinstein S, Sperling O, Frishberg Y
Mol Genet Metab 2006 Mar;87(3):249-52. Epub 2005 Dec 15 doi: 10.1016/j.ymgme.2005.09.025. PMID: 16343967

Familial occurrence of idiopathic infantile hypercalcemia.

McTaggart SJ, Craig J, MacMillan J, Burke JR
Pediatr Nephrol 1999 Oct;13(8):668-71. doi: 10.1007/s004670050678. PMID: 10502124

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Prognosis

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831 Free PMC Article

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

Fozia F, Shah K, Nazli R, Khan SA, Ahmad I, Mohammad N, Khan S, Alotaibi A
J Clin Lab Anal 2022 Jan;36(1):e24127. Epub 2021 Dec 8 doi: 10.1002/jcla.24127. PMID: 34877714 Free PMC Article

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.

Banihashemi S, Tahmasebi-Birgani M, Mohammadiasl J, Hajjari M
Eur J Med Genet 2020 Apr;63(4):103846. Epub 2020 Jan 21 doi: 10.1016/j.ejmg.2020.103846. PMID: 31978615

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636

Diagnostic exome sequencing in persons with severe intellectual disability.

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Clinical prediction guides

Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.

Hirayama H, Fujihira H, Suzuki T
Glycobiology 2024 Sep 30;34(11) doi: 10.1093/glycob/cwae067. PMID: 39206713 Free PMC Article

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability.

Banihashemi S, Tahmasebi-Birgani M, Mohammadiasl J, Hajjari M
Eur J Med Genet 2020 Apr;63(4):103846. Epub 2020 Jan 21 doi: 10.1016/j.ejmg.2020.103846. PMID: 31978615

Diagnostic exome sequencing in persons with severe intellectual disability.

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V
Eur J Hum Genet 2010 Oct;18(10):1107-13. Epub 2010 Jun 9 doi: 10.1038/ejhg.2010.82. PMID: 20531441 Free PMC Article

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Recent systematic reviews

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V
Mov Disord Clin Pract 2024 Sep;11(9):1072-1084. Epub 2024 Jul 12 doi: 10.1002/mdc3.14157. PMID: 39001623 Free PMC Article

Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.

Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Endocr Metab Immune Disord Drug Targets 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. PMID: 32533820

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Intellectual disability, autosomal recessive 3(MRT3)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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