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Poirier-Bienvenu neurodevelopmental syndrome(POBINDS)

MedGen UID:
1684718
•Concept ID:
C5231482
•
Disease or Syndrome
Synonym: POBINDS
 
Gene (location): CSNK2B (6p21.33)
 
Monarch Initiative: MONDO:0032889
OMIM®: 618732

Definition

Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID). The severity of neurologic impairment is highly variable: some patients may have refractory seizures and be bedridden with no meaningful speech, whereas others may have treatment-responsive seizures and achieve normal psychomotor development (summary by Li et al., 2019). [from OMIM]

Clinical features

From HPO
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.
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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.
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Myoclonic seizure
MedGen UID:
1385980
•Concept ID:
C4317123
•
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
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Generalized hypotonia
MedGen UID:
346841
•Concept ID:
C1858120
•
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
See: Feature record | Search on this feature
Open mouth
MedGen UID:
116104
•Concept ID:
C0240379
•
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
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Protruding tongue
MedGen UID:
66831
•Concept ID:
C0241442
•
Finding
Tongue extending beyond the alveolar ridges or teeth at rest.
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Mandibular prognathia
MedGen UID:
98316
•Concept ID:
C0399526
•
Finding
Abnormal prominence of the chin related to increased length of the mandible.
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Smooth philtrum
MedGen UID:
222980
•Concept ID:
C1142533
•
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
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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.
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Recent clinical studies

Etiology

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM
Genes (Basel) 2022 Jan 30;13(2) doi: 10.3390/genes13020276. PMID: 35205321Free PMC Article
Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P, Baggio M, Duma GM, Negrin S, Danieli A, Giorda R
Seizure 2021 Dec;93:133-139. Epub 2021 Oct 27 doi: 10.1016/j.seizure.2021.10.019. PMID: 34740143
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L
Neurogenetics 2021 Oct;22(4):323-332. Epub 2021 Aug 9 doi: 10.1007/s10048-021-00649-2. PMID: 34370157

Diagnosis

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D, Zhou B, Tian X, Chen X, Wang Y, Hao S, Zhang C, Hui L
Mol Genet Genomic Med 2024 Jan;12(1):e2327. Epub 2023 Nov 30 doi: 10.1002/mgg3.2327. PMID: 38037515Free PMC Article
Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P, Baggio M, Duma GM, Negrin S, Danieli A, Giorda R
Seizure 2021 Dec;93:133-139. Epub 2021 Oct 27 doi: 10.1016/j.seizure.2021.10.019. PMID: 34740143
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L
Neurogenetics 2021 Oct;22(4):323-332. Epub 2021 Aug 9 doi: 10.1007/s10048-021-00649-2. PMID: 34370157
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Selvam P, Jain A, Cheema A, Atwal H, Forghani I, Atwal PS
Am J Med Genet A 2021 Feb;185(2):539-543. Epub 2020 Nov 9 doi: 10.1002/ajmg.a.61960. PMID: 33166063

Prognosis

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D, Zhou B, Tian X, Chen X, Wang Y, Hao S, Zhang C, Hui L
Mol Genet Genomic Med 2024 Jan;12(1):e2327. Epub 2023 Nov 30 doi: 10.1002/mgg3.2327. PMID: 38037515Free PMC Article
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.
Di Stazio M, Zanus C, Faletra F, Pesaresi A, Ziccardi I, Morgan A, Girotto G, Costa P, Carrozzi M, d'Adamo AP, Musante L
Genes (Basel) 2023 Jan 18;14(2) doi: 10.3390/genes14020250. PMID: 36833176Free PMC Article
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L
Neurogenetics 2021 Oct;22(4):323-332. Epub 2021 Aug 9 doi: 10.1007/s10048-021-00649-2. PMID: 34370157

Clinical prediction guides

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D, Zhou B, Tian X, Chen X, Wang Y, Hao S, Zhang C, Hui L
Mol Genet Genomic Med 2024 Jan;12(1):e2327. Epub 2023 Nov 30 doi: 10.1002/mgg3.2327. PMID: 38037515Free PMC Article
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.
Di Stazio M, Zanus C, Faletra F, Pesaresi A, Ziccardi I, Morgan A, Girotto G, Costa P, Carrozzi M, d'Adamo AP, Musante L
Genes (Basel) 2023 Jan 18;14(2) doi: 10.3390/genes14020250. PMID: 36833176Free PMC Article
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L
Neurogenetics 2021 Oct;22(4):323-332. Epub 2021 Aug 9 doi: 10.1007/s10048-021-00649-2. PMID: 34370157

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