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Jeffries-Lakhani neurodevelopmental syndrome

MedGen UID:
1052364
Concept ID:
CN377243
Disease or Syndrome
Gene (location): CRELD1 (3p25.3)
 
Monarch Initiative: MONDO:0958329
OMIM®: 620771

Definition

Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal. Some patients have cardiac arrhythmia, but congenital cardiac septal defects are only rarely observed. Additional features may include feeding difficulties, recurrent infections, ocular defects, and nonspecific dysmorphic features. Premature death due to cardiac arrhythmia or epilepsy may occur (Jeffries et al., 2024). [from OMIM]

Professional guidelines

PubMed

Johnson KA, Worbe Y, Foote KD, Butson CR, Gunduz A, Okun MS
Lancet Neurol 2023 Feb;22(2):147-158. Epub 2022 Oct 28 doi: 10.1016/S1474-4422(22)00303-9. PMID: 36354027Free PMC Article
Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K
Am J Obstet Gynecol 2022 Mar;226(3):366-378. Epub 2022 Jan 10 doi: 10.1016/j.ajog.2021.11.1357. PMID: 35026129Free PMC Article
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article

Recent clinical studies

Etiology

Müller HL, Tauber M, Lawson EA, Özyurt J, Bison B, Martinez-Barbera JP, Puget S, Merchant TE, van Santen HM
Nat Rev Dis Primers 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z. PMID: 35449162
DelRosso LM, Picchietti DL, Spruyt K, Bruni O, Garcia-Borreguero D, Kotagal S, Owens JA, Simakajornboon N, Ferri R; International Restless Legs Syndrome Study Group (IRLSSG)
Sleep Med Rev 2021 Apr;56:101406. Epub 2020 Dec 1 doi: 10.1016/j.smrv.2020.101406. PMID: 33341437
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
McCann ME, Soriano SG
BMJ 2019 Dec 9;367:l6459. doi: 10.1136/bmj.l6459. PMID: 31818811
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC
Clin Genet 2019 Apr;95(4):462-478. Epub 2019 Feb 18 doi: 10.1111/cge.13506. PMID: 30677142

Diagnosis

Levy T, Siper PM, Lerman B, Halpern D, Zweifach J, Belani P, Thurm A, Kleefstra T, Berry-Kravis E, Buxbaum JD, Grice DE
Pediatr Neurol 2023 Jan;138:87-94. Epub 2022 Oct 27 doi: 10.1016/j.pediatrneurol.2022.10.009. PMID: 36434914
Raga S, Specchio N, Rheims S, Wilmshurst JM
Epileptic Disord 2021 Feb 1;23(1):40-52. doi: 10.1684/epd.2021.1244. PMID: 33632673
Harris J
Int Rev Psychiatry 2018 Feb;30(1):3-17. Epub 2018 Apr 18 doi: 10.1080/09540261.2018.1455646. PMID: 29667863
Lai MC, Baron-Cohen S
Lancet Psychiatry 2015 Nov;2(11):1013-27. doi: 10.1016/S2215-0366(15)00277-1. PMID: 26544750
Kalsner L, Chamberlain SJ
Pediatr Clin North Am 2015 Jun;62(3):587-606. Epub 2015 Apr 22 doi: 10.1016/j.pcl.2015.03.004. PMID: 26022164Free PMC Article

Therapy

Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K
Am J Obstet Gynecol 2022 Mar;226(3):366-378. Epub 2022 Jan 10 doi: 10.1016/j.ajog.2021.11.1357. PMID: 35026129Free PMC Article
Behnke J, Lemyre B, Czernik C, Zimmer KP, Ehrhardt H, Waitz M
Dtsch Arztebl Int 2019 Mar 8;116(11):177-183. doi: 10.3238/arztebl.2019.0177. PMID: 31014448Free PMC Article
Wachman EM, Schiff DM, Silverstein M
JAMA 2018 Apr 3;319(13):1362-1374. doi: 10.1001/jama.2018.2640. PMID: 29614184
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free PMC Article

Prognosis

Redline S, Cook K, Chervin RD, Ishman S, Baldassari CM, Mitchell RB, Tapia IE, Amin R, Hassan F, Ibrahim S, Ross K, Elden LM, Kirkham EM, Zopf D, Shah J, Otteson T, Naqvi K, Owens J, Young L, Furth S, Connolly H, Clark CAC, Bakker JP, Garetz S, Radcliffe J, Taylor HG, Rosen CL, Wang R; Pediatric Adenotonsillectomy Trial for Snoring (PATS) Study Team
JAMA 2023 Dec 5;330(21):2084-2095. doi: 10.1001/jama.2023.22114. PMID: 38051326Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Henry MC, Moss RL
Semin Pediatr Surg 2008 May;17(2):98-109. doi: 10.1053/j.sempedsurg.2008.02.005. PMID: 18395659
Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR
Pediatr Neurol 2004 Mar;30(3):151-62. doi: 10.1016/j.pediatrneurol.2003.08.004. PMID: 15033196

Clinical prediction guides

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
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article

Recent systematic reviews

Parrella NF, Hill AT, Enticott PG, Barhoun P, Bower IS, Ford TC
Pharmacol Biochem Behav 2023 Sep;230:173607. Epub 2023 Aug 4 doi: 10.1016/j.pbb.2023.173607. PMID: 37543051
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
DelRosso LM, Picchietti DL, Spruyt K, Bruni O, Garcia-Borreguero D, Kotagal S, Owens JA, Simakajornboon N, Ferri R; International Restless Legs Syndrome Study Group (IRLSSG)
Sleep Med Rev 2021 Apr;56:101406. Epub 2020 Dec 1 doi: 10.1016/j.smrv.2020.101406. PMID: 33341437
Romero R, Conde-Agudelo A, Da Fonseca E, O'Brien JM, Cetingoz E, Creasy GW, Hassan SS, Nicolaides KH
Am J Obstet Gynecol 2018 Feb;218(2):161-180. Epub 2017 Nov 17 doi: 10.1016/j.ajog.2017.11.576. PMID: 29157866Free PMC Article
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free PMC Article

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