Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.

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Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

Neuropediatrics ◽

10.1055/s-0041-1739132 ◽

2021 ◽

Author(s):

Ramona Cordani ◽

Livia Pisciotta ◽

Maria Margherita Mancardi ◽

Michela Stagnaro ◽

Giulia Prato ◽

...

Keyword(s):

Case Report ◽

Neurological Disease ◽

Neurological Deficits ◽

Loss Of Consciousness ◽

Gene Variants ◽

Alternating Hemiplegia Of Childhood ◽

Phenotypic Spectrum ◽

Genetics And Genomics ◽

Epilepsy Gene ◽

Main Clinical Manifestation

AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.

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Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

BMJ Case Reports ◽

10.1136/bcr.08.2008.0665 ◽

2009 ◽

Vol 2009 (jan21 1) ◽

pp. bcr0820080665-bcr0820080665

Author(s):

C Orellana ◽

J. Bernabeu ◽

S. Monfort ◽

M. Rosello ◽

J. S. Oltra ◽

...

Keyword(s):

Case Report ◽

Critical Region ◽

Phenotypic Spectrum

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Expanding the phenotypic spectrum associated withDPF2: A new case report

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61262 ◽

2019 ◽

Vol 179 (8) ◽

pp. 1637-1641 ◽

Cited By ~ 3

Author(s):

Karen M Knapp ◽

Gemma Poke ◽

Danielle Jenkins ◽

Werner Truter ◽

Louise S. Bicknell

Keyword(s):

Case Report ◽

Phenotypic Spectrum

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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

BMC Medical Genetics ◽

10.1186/s12881-017-0395-6 ◽

2017 ◽

Vol 18 (1) ◽

Cited By ~ 9

Author(s):

Mahmoud F. Elsaid ◽

Khalid Ibrahim ◽

Nader Chalhoub ◽

Ahmed Elsotouhy ◽

Noora El Mudehki ◽

...

Keyword(s):

Case Report ◽

Corpus Callosum ◽

Spastic Paraplegia ◽

Thin Corpus Callosum ◽

Splicing Variant ◽

Phenotypic Spectrum

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Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

Journal of Medical Genetics ◽

10.1136/jmg.2007.054064 ◽

2007 ◽

Vol 45 (3) ◽

pp. 187-189 ◽

Cited By ~ 17

Author(s):

C Orellana ◽

J Bernabeu ◽

S Monfort ◽

M Rosello ◽

S Oltra ◽

...

Keyword(s):

Case Report ◽

Critical Region ◽

Phenotypic Spectrum

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Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.32731 ◽

2009 ◽

Vol 149A (5) ◽

pp. 861-867 ◽

Cited By ~ 39

Author(s):

Johan L.K. Van Hove ◽

Vicki Cunningham ◽

Cathlin Rice ◽

Steven P. Ringel ◽

Qing Zhang ◽

...

Keyword(s):

Case Report ◽

Phenotypic Spectrum ◽

Dominant Disease

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Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

American Journal of Perinatology Reports ◽

10.1055/s-0040-1722728 ◽

2021 ◽

Vol 11 (01) ◽

pp. e26-e28

Author(s):

Kuntal Sen ◽

Shagun Kaur ◽

David W. Stockton ◽

Mary Nyhuis ◽

Jacquelyn Roberson

Keyword(s):

Case Report ◽

Genetic Testing ◽

Genome Sequencing ◽

Whole Genome ◽

Severe Phenotype ◽

Genetic Etiology ◽

Dysmorphic Features ◽

Phenotypic Spectrum ◽

History Of ◽

Cobblestone Lissencephaly

Abstract Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in LAMB1 gene. Discussion The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1-associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.

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