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Intellectual disability, autosomal dominant 39(MRD39)

MedGen UID:
909304
Concept ID:
C4225296
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39; Mental retardation, autosomal dominant 39; MRD39
 
Gene (location): MYT1L (2p25.3)
 
Monarch Initiative: MONDO:0014678
OMIM®: 616521

Definition

An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features. [from NCI]

Clinical features

From HPO
Bilateral talipes equinovarus
MedGen UID:
332956
Concept ID:
C1837835
Congenital Abnormality
Bilateral clubfoot deformity.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
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.
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.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
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.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Wide nasal base
MedGen UID:
341506
Concept ID:
C1849667
Finding
Increased distance between the attachments of the alae nasi to the face.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntellectual disability, autosomal dominant 39

Recent clinical studies

Etiology

Pena JLB, Melo FJ, Santos WC, Moura ICG, Nakashima GP, Freitas NC, Sternick EB
Arq Bras Cardiol 2022 Dec;119(6):902-909. doi: 10.36660/abc.20210801. PMID: 36417616Free PMC Article
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A
J Med Genet 2022 Feb;59(2):170-179. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107281. PMID: 33323470Free PMC Article
Al Tuwaijri A, Alfadhel M
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505. PMID: 30796847
López M, Seidel V, Santibáñez P, Cervera-Acedo C, Castro-de Castro P, Domínguez-Garrido E
BMC Med Genet 2016 Dec 13;17(1):97. doi: 10.1186/s12881-016-0361-8. PMID: 27964710Free PMC Article
Bounakis N, Karampalis C, Sharp H, Tsirikos AI
J Med Case Rep 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10. PMID: 25596810Free PMC Article

Diagnosis

Zhao A, Zhou R, Gu Q, Liu M, Zhang B, Huang J, Yang B, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Chen X
Clin Chim Acta 2021 Dec;523:10-18. Epub 2021 Aug 31 doi: 10.1016/j.cca.2021.08.030. PMID: 34478686
Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I
Hum Genet 2021 Jul;140(7):1011-1029. Epub 2021 Mar 12 doi: 10.1007/s00439-021-02268-1. PMID: 33710394Free PMC Article
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
López M, Seidel V, Santibáñez P, Cervera-Acedo C, Castro-de Castro P, Domínguez-Garrido E
BMC Med Genet 2016 Dec 13;17(1):97. doi: 10.1186/s12881-016-0361-8. PMID: 27964710Free PMC Article
Robert A, Leroy V, Riquet A, Gogneaux L, Boutry N, Avni FE
Radiol Med 2016 May;121(5):402-8. Epub 2015 Jul 29 doi: 10.1007/s11547-015-0572-7. PMID: 26219723

Prognosis

Al Tuwaijri A, Alfadhel M
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505. PMID: 30796847
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L
Hum Mutat 2018 Aug;39(8):1076-1080. Epub 2018 Jun 4 doi: 10.1002/humu.23554. PMID: 29782060Free PMC Article
Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study
Clin Dysmorphol 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143. PMID: 27465822
Bounakis N, Karampalis C, Sharp H, Tsirikos AI
J Med Case Rep 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10. PMID: 25596810Free PMC Article

Clinical prediction guides

Zhao A, Zhou R, Gu Q, Liu M, Zhang B, Huang J, Yang B, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Chen X
Clin Chim Acta 2021 Dec;523:10-18. Epub 2021 Aug 31 doi: 10.1016/j.cca.2021.08.030. PMID: 34478686
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L
Hum Mutat 2018 Aug;39(8):1076-1080. Epub 2018 Jun 4 doi: 10.1002/humu.23554. PMID: 29782060Free PMC Article
Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study
Clin Dysmorphol 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143. PMID: 27465822

Recent systematic reviews

Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J
BMC Med Genet 2018 Feb 27;19(1):31. doi: 10.1186/s12881-018-0545-5. PMID: 29482518Free PMC Article

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