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Intellectual disability, autosomal dominant 41(MRD41)

MedGen UID:
934751
Concept ID:
C4310784
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41; MRD41
 
Gene (location): TBL1XR1 (3q26.32)
 
Monarch Initiative: MONDO:0014842
OMIM®: 616944

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. [from MONDO]

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tonic seizure
MedGen UID:
82855
Concept ID:
C0270844
Disease or Syndrome
A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
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.
Hypsarrhythmia
MedGen UID:
195766
Concept ID:
C0684276
Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
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.
Epileptic spasm
MedGen UID:
315948
Concept ID:
C1527366
Disease or Syndrome
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur
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.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.

Professional guidelines

PubMed

Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF
Eur J Med Genet 2022 Oct;65(10):104573. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104573. PMID: 35918040
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S
Ital J Pediatr 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. PMID: 25599811Free PMC Article

Recent clinical studies

Etiology

Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, McKay N, Chen CD, Benzinger TLS, Fagan AM, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant S, Lai F, Rosas HD, Lee JH, Silverman W, Brickman AM, Chhatwal JP, Cruchaga C, Perrin RJ, Xiong C, Hassenstab J, McDade E, Bateman RJ, Ances BM; Alzheimer's Biomarker Consortium-Down Syndrome; Dominantly Inherited Alzheimer Network
Lancet Neurol 2023 Jan;22(1):55-65. doi: 10.1016/S1474-4422(22)00408-2. PMID: 36517172Free PMC Article
Wang MX, Segaran N, Bhalla S, Pickhardt PJ, Lubner MG, Katabathina VS, Ganeshan D
Radiographics 2021 Nov-Dec;41(7):1992-2010. Epub 2021 Sep 17 doi: 10.1148/rg.2021210103. PMID: 34534018
Fagan AM, Henson RL, Li Y, Boerwinkle AH, Xiong C, Bateman RJ, Goate A, Ances BM, Doran E, Christian BT, Lai F, Rosas HD, Schupf N, Krinsky-McHale S, Silverman W, Lee JH, Klunk WE, Handen BL, Allegri RF, Chhatwal JP, Day GS, Graff-Radford NR, Jucker M, Levin J, Martins RN, Masters CL, Mori H, Mummery CJ, Niimi Y, Ringman JM, Salloway S, Schofield PR, Shoji M, Lott IT; Alzheimer's Biomarker Consortium–Down Syndrome; Dominantly Inherited Alzheimer Network
Lancet Neurol 2021 Aug;20(8):615-626. doi: 10.1016/S1474-4422(21)00139-3. PMID: 34302786Free PMC Article
Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH
Clin Genet 2019 Jan;95(1):151-159. Epub 2018 Nov 19 doi: 10.1111/cge.13463. PMID: 30315573
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M
J Pediatr Urol 2014 Oct;10(5):804-9. Epub 2014 Feb 13 doi: 10.1016/j.jpurol.2014.01.013. PMID: 24582571

Diagnosis

Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF
Eur J Med Genet 2022 Oct;65(10):104573. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104573. PMID: 35918040
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F
J Med Genet 2022 Jul;59(7):697-705. Epub 2021 Jul 28 doi: 10.1136/jmedgenet-2020-107470. PMID: 34321323Free PMC Article
Wang MX, Segaran N, Bhalla S, Pickhardt PJ, Lubner MG, Katabathina VS, Ganeshan D
Radiographics 2021 Nov-Dec;41(7):1992-2010. Epub 2021 Sep 17 doi: 10.1148/rg.2021210103. PMID: 34534018
Fagan AM, Henson RL, Li Y, Boerwinkle AH, Xiong C, Bateman RJ, Goate A, Ances BM, Doran E, Christian BT, Lai F, Rosas HD, Schupf N, Krinsky-McHale S, Silverman W, Lee JH, Klunk WE, Handen BL, Allegri RF, Chhatwal JP, Day GS, Graff-Radford NR, Jucker M, Levin J, Martins RN, Masters CL, Mori H, Mummery CJ, Niimi Y, Ringman JM, Salloway S, Schofield PR, Shoji M, Lott IT; Alzheimer's Biomarker Consortium–Down Syndrome; Dominantly Inherited Alzheimer Network
Lancet Neurol 2021 Aug;20(8):615-626. doi: 10.1016/S1474-4422(21)00139-3. PMID: 34302786Free PMC Article
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S
Ital J Pediatr 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. PMID: 25599811Free PMC Article

Therapy

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

Prognosis

Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK
Neuro Endocrinol Lett 2021 Jan;41(6):285-289. PMID: 33714239
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

Clinical prediction guides

Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF
Eur J Med Genet 2022 Oct;65(10):104573. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104573. PMID: 35918040
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F
J Med Genet 2022 Jul;59(7):697-705. Epub 2021 Jul 28 doi: 10.1136/jmedgenet-2020-107470. PMID: 34321323Free PMC Article
Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK
Neuro Endocrinol Lett 2021 Jan;41(6):285-289. PMID: 33714239
Jean S, Richer L, Laberge L, Mathieu J
Orphanet J Rare Dis 2014 Nov 26;9:186. doi: 10.1186/s13023-014-0186-5. PMID: 25424323Free PMC Article
Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T
Am J Med Genet A 2013 Aug;161A(8):2078-83. Epub 2013 Jul 4 doi: 10.1002/ajmg.a.36027. PMID: 23825006

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