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Intellectual disability, autosomal recessive 50(MRT50)

MedGen UID:
906893
•Concept ID:
C4225319
•
Mental or Behavioral Dysfunction
Synonym: MRT50
 
Gene (location): EDC3 (15q24.1)
 
Monarch Initiative: MONDO:0014649
OMIM®: 616460

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
Intellectual disability, mild
MedGen UID:
10044
•Concept ID:
C0026106
•
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Heterochromia iridis
MedGen UID:
98395
•Concept ID:
C0423318
•
Finding
Heterochromia iridis is a difference in the color of the iris in the two eyes.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

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: 37183190Free PMC Article
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.
Mignarri A, Gallus GN, Dotti MT, Federico A
J Inherit Metab Dis 2014 May;37(3):421-9. Epub 2014 Jan 18 doi: 10.1007/s10545-013-9674-3. PMID: 24442603
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C
Mol Vis 2005 Sep 2;11:705-12. PMID: 16163268

Recent clinical studies

Etiology

Proteome changes in autosomal recessive primary microcephaly.
Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM
Ann Hum Genet 2023 Mar;87(1-2):50-62. Epub 2022 Nov 29 doi: 10.1111/ahg.12489. PMID: 36448252
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M
J Clin Lab Anal 2022 Feb;36(2):e24241. Epub 2022 Jan 12 doi: 10.1002/jcla.24241. PMID: 35019165Free PMC Article
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.
Ghaffar A, Rasheed F, Rashid M, van Bokhoven H, Ahmed ZM, Riazuddin S, Riazuddin S
Eur J Hum Genet 2022 Feb;30(2):243-247. Epub 2021 Nov 8 doi: 10.1038/s41431-021-00968-w. PMID: 34750527Free PMC Article
Congenital hypothyroidism clinical aspects and late consequences.
Büyükgebiz A
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:185-90; discussion 190. PMID: 16444157
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Diagnosis

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
Johanson-blizzard syndrome.
Godbole K, Maja S, Leena H, Martin Z
Indian Pediatr 2013 May 8;50(5):510-2. PMID: 23778732
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
Alpha-mannosidosis.
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article

Therapy

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH
Eur J Med Genet 2012 Jan;55(1):71-4. Epub 2011 Sep 16 doi: 10.1016/j.ejmg.2011.08.003. PMID: 21958693
Congenital hypothyroidism clinical aspects and late consequences.
Büyükgebiz A
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:185-90; discussion 190. PMID: 16444157

Prognosis

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M
J Clin Lab Anal 2022 Feb;36(2):e24241. Epub 2022 Jan 12 doi: 10.1002/jcla.24241. PMID: 35019165Free PMC Article
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.
Ghaffar A, Rasheed F, Rashid M, van Bokhoven H, Ahmed ZM, Riazuddin S, Riazuddin S
Eur J Hum Genet 2022 Feb;30(2):243-247. Epub 2021 Nov 8 doi: 10.1038/s41431-021-00968-w. PMID: 34750527Free PMC Article
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
Alpha-mannosidosis.
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Clinical prediction guides

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
Proteome changes in autosomal recessive primary microcephaly.
Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM
Ann Hum Genet 2023 Mar;87(1-2):50-62. Epub 2022 Nov 29 doi: 10.1111/ahg.12489. PMID: 36448252
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M
J Clin Lab Anal 2022 Feb;36(2):e24241. Epub 2022 Jan 12 doi: 10.1002/jcla.24241. PMID: 35019165Free PMC Article
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.
Ghaffar A, Rasheed F, Rashid M, van Bokhoven H, Ahmed ZM, Riazuddin S, Riazuddin S
Eur J Hum Genet 2022 Feb;30(2):243-247. Epub 2021 Nov 8 doi: 10.1038/s41431-021-00968-w. PMID: 34750527Free PMC Article
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

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