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Intellectual disability, autosomal recessive 47(MRT47)

MedGen UID:
863881
•Concept ID:
C4015444
•
Disease or Syndrome
Synonym: MRT47
 
Gene (location): FMN2 (1q43)
 
Monarch Initiative: MONDO:0014524
OMIM®: 616193

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene. [from MONDO]

Clinical features

From HPO
Mitral valve prolapse
MedGen UID:
7671
•Concept ID:
C0026267
•
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
See: Feature record | Search on this feature
Focal impaired awareness seizure
MedGen UID:
543022
•Concept ID:
C0270834
•
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
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
Poor speech
MedGen UID:
341172
•Concept ID:
C1848207
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Generalized hypotonia
MedGen UID:
346841
•Concept ID:
C1858120
•
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.
Basel-Vanagaite L, Taub E, Halpern GJ, Drasinover V, Magal N, Davidov B, Zlotogora J, Shohat M
Eur J Hum Genet 2007 Feb;15(2):250-3. Epub 2006 Dec 6 doi: 10.1038/sj.ejhg.5201750. PMID: 17149387
Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).
Neuhäuser G, Opitz JM
Z Kinderheilkd 1975 Nov 13;120(4):231-42. doi: 10.1007/BF00440262. PMID: 1189520

Recent clinical studies

Etiology

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Masri AT, Oweis L, Ali M, Hamamy H
Clin Neurol Neurosurg 2023 Jul;230:107799. Epub 2023 May 22 doi: 10.1016/j.clineuro.2023.107799. PMID: 37236004
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S
Hum Mutat 2018 Mar;39(3):319-332. Epub 2018 Jan 16 doi: 10.1002/humu.23381. PMID: 29243349
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867

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
Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Masri AT, Oweis L, Ali M, Hamamy H
Clin Neurol Neurosurg 2023 Jul;230:107799. Epub 2023 May 22 doi: 10.1016/j.clineuro.2023.107799. PMID: 37236004
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867

Therapy

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.
Mercimek-Mahmutoglu S, Salomons GS, Chan A
Pediatr Neurol 2014 Jul;51(1):133-7. Epub 2014 Feb 21 doi: 10.1016/j.pediatrneurol.2014.02.011. PMID: 24766785

Prognosis

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M
Hum Mutat 2015 Jun;36(6):593-8. Epub 2015 Apr 21 doi: 10.1002/humu.22795. PMID: 25824905
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867
Autosomal recessive cerebellar hypoplasia in the Hutterite population.
Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR
Dev Med Child Neurol 2005 Oct;47(10):691-5. doi: 10.1017/S0012162205001404. PMID: 16174313

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
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.
Soomro A, Alsop RJ, Negishi A, Kreplak L, Fudge D, Kuczmarski ER, Goldman RD, Rheinstädter MC
J R Soc Interface 2017 Apr;14(129) doi: 10.1098/rsif.2017.0123. PMID: 28424304Free PMC Article
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M
Hum Mutat 2015 Jun;36(6):593-8. Epub 2015 Apr 21 doi: 10.1002/humu.22795. PMID: 25824905
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
Nowaczyk MJ, Tan M, Hamid JS, Allanson JE
Am J Med Genet A 2012 May;158A(5):1020-8. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.35285. PMID: 22438180
Congenital hypothyroidism. Aetiological and clinical aspects.
Mäenpää J
Arch Dis Child 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. PMID: 4119068Free PMC Article

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