Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

MedGen UID:: 1636705
•Concept ID:: C4708510
•: Disease or Syndrome

Synonyms:	5q31.3 microdeletion syndrome; Del(5)(q31.3); Monosomy 5q31.3; monosomy 5q31.3; Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion; severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
SNOMED CT:	Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion (768555009); 5q31.3 microdeletion syndrome (768555009)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0017811
Orphanet:	ORPHA314655

Definition

Syndrome with characteristics of infancy onset hypotonia, feeding difficulties, breathing problems, dysphagia, severely delayed development of speech and motor skills, distinctive facial features, recurrent seizures and seizure-like episodes (muscle jerking, twitching, and stiffening). Brain abnormalities may also be present several of which are caused by reduced production of myelin or delayed maturation of myelin. Caused by a microdeletion occurring on the long (q) arm of chromosome 5 at a position designated q31.3. The deleted region typically contains at least three genes. The loss of one of these genes, PURA, is thought to lead to most of the characteristic features of the condition. The condition is not inherited. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSevere neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Partial deletion of the long arm of chromosome 5
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Recent clinical studies

Etiology

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.

Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH
Brain Dev 2021 Oct;43(9):912-918. Epub 2021 Jun 8 doi: 10.1016/j.braindev.2021.05.009. PMID: 34116881

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Diagnosis

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.

Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH
Brain Dev 2021 Oct;43(9):912-918. Epub 2021 Jun 8 doi: 10.1016/j.braindev.2021.05.009. PMID: 34116881

Patient with a novel purine-rich element binding protein A mutation.

Okamoto N, Nakao H, Niihori T, Aoki Y
Congenit Anom (Kyoto) 2017 Nov;57(6):201-204. Epub 2017 Mar 24 doi: 10.1111/cga.12214. PMID: 28164378

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study, Magee AC, Turnpenny PD, Baralle D
J Med Genet 2014 Dec;51(12):806-13. Epub 2014 Oct 23 doi: 10.1136/jmedgenet-2014-102798. PMID: 25342064 Free PMC Article

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Clinical prediction guides

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F
Am J Hum Genet 2014 Nov 6;95(5):579-83. Epub 2014 Oct 16 doi: 10.1016/j.ajhg.2014.09.014. PMID: 25439098 Free PMC Article

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S
Am J Med Genet A 2012 Aug;158A(8):1891-6. Epub 2012 Jun 18 doi: 10.1002/ajmg.a.35439. PMID: 22711443

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Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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