Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

Metabolic Brain Disease ◽

10.1007/s11011-021-00827-z ◽

2021 ◽

Author(s):

Patryk Lipiński ◽

Milena Greczan ◽

Dorota Piekutowska-Abramczuk ◽

Elżbieta Jurkiewicz ◽

Agnieszka Bakuła ◽

...

Keyword(s):

Intellectual Disability ◽

Liver Failure ◽

Acute Liver Failure ◽

Pediatric Patient ◽

Brain Atrophy ◽

Muscular Hypotonia ◽

Motor Delay ◽

Pathogenic Variants

AbstractBiallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectual disability, muscular hypotonia and a mild brain atrophy, have been reported. Here, we describe a case of pediatric patient diagnosed with NBAS deficiency due to a homozygous c.2809C > G, p.(Pro937Ala) variant presenting with RALF with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Not reported in the literature findings include severe hyperammonemia during ALF episode, and neurologic features in the form of acquired progressive microcephaly with brain atrophy. The latter raises the hypothesis about a primary neurologic phenotype in NBAS deficiency.

Download Full-text

A Report on a Family with TMTC3-Related Syndrome and Review

Case Reports in Medicine ◽

10.1155/2020/7163038 ◽

2020 ◽

Vol 2020 ◽

pp. 1-6

Author(s):

Sayeeda Hana ◽

Deepak karthik ◽

Jingxuan Shan ◽

Stephany El Hayek ◽

Lotfi Chouchane ◽

...

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Neuronal Migration ◽

Psychomotor Retardation ◽

Muscular Hypotonia ◽

Review Of The Literature ◽

Recessive Mutations ◽

Whole Exome ◽

Development Delay ◽

Cobblestone Lissencephaly

Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. A review of the literature on TMTC3-related syndrome and its causal mutations is provided.

Download Full-text

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Epilepsia ◽

10.1111/epi.12554 ◽

2014 ◽

Vol 55 (4) ◽

pp. e25-e29 ◽

Cited By ~ 41

Author(s):

Anna-Lena Baasch ◽

Irina Hüning ◽

Christian Gilissen ◽

Joerg Klepper ◽

Joris A. Veltman ◽

...

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Optic Atrophy ◽

Muscular Hypotonia ◽

Brain Abnormalities ◽

Severe Intellectual Disability ◽

Intractable Seizures

Download Full-text

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2016.05.027 ◽

2016 ◽

Vol 99 (2) ◽

pp. 414-422 ◽

Cited By ~ 31

Author(s):

Robert Kopajtich ◽

Kei Murayama ◽

Andreas R. Janecke ◽

Tobias B. Haack ◽

Maximilian Breuer ◽

...

Keyword(s):

Intellectual Disability ◽

Growth Retardation ◽

Muscular Hypotonia

Download Full-text

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

European Journal of Human Genetics ◽

10.1038/s41431-021-00865-2 ◽

2021 ◽

Author(s):

Britta Hanker ◽

Gabriele Gillessen-Kaesbach ◽

Irina Hüning ◽

Hermann-Josef Lüdecke ◽

Dagmar Wieczorek

Keyword(s):

Intellectual Disability ◽

Missense Variant ◽

Body Measurements ◽

Muscular Hypotonia ◽

Ocular Motor ◽

Maternal Transmission ◽

Normal Range ◽

Motor Apraxia ◽

Diagnostic Clue ◽

First Time

AbstractHere we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous parents. Cogan ocular motor apraxia was present in both sisters. Body measurements were in a normal range. The mother and both daughters showed hypoplastic nails of the fifth toes. A missense variant in SOX11 [c.139 G > A; p.(Gly47Ser)] in both sisters and their mother was identified. Since 2014, variants in SOX11 are known to cause mild CSS. Most described patients showed intellectual disability, especially concerning acquired language. All of them had hypoplastic nails of the fifth toes. It is of note, that some of these patients show Cogan ocular motor apraxia. The facial dysmorphic features seem not to be specific. We suggest that the combination of Cogan ocular motor apraxia, hypoplastic nails of fifth toes, and developmental delay give the important diagnostic clue for a variant in the SOX11 gene (OMIM 615866, MR 27).

Download Full-text

Normocentric biases taint cognitive neuroscience and intervention of autism

Behavioral and Brain Sciences ◽

10.1017/s0140525x18002297 ◽

2019 ◽

Vol 42 ◽

Cited By ~ 1

Author(s):

Laurent Mottron

Keyword(s):

Intellectual Disability ◽

Cognitive Neuroscience ◽

Social Motivation ◽

Repetitive Behaviors ◽

Restricted Interests ◽

Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

Download Full-text