Exome sequencing identifies compound heterozygous mutations inC12orf57in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

Konrad Platzer; Irina Hüning; Carolin Obieglo; Thomas Schwarzmayr; Rainer Gabriel; Tim M. Strom; Gabriele Gillessen-Kaesbach; Frank J. Kaiser

doi:10.1002/ajmg.a.36592

Exome sequencing identifies compound heterozygous mutations inC12orf57in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36592 ◽

2014 ◽

Vol 164 (8) ◽

pp. 1976-1980 ◽

Cited By ~ 4

Author(s):

Konrad Platzer ◽

Irina Hüning ◽

Carolin Obieglo ◽

Thomas Schwarzmayr ◽

Rainer Gabriel ◽

...

Keyword(s):

Intellectual Disability ◽

Corpus Callosum ◽

Exome Sequencing ◽

Compound Heterozygous ◽

Severe Intellectual Disability ◽

Intractable Seizures ◽

Compound Heterozygous Mutations

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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

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Faculty Opinions recommendation of Diagnostic exome sequencing in persons with severe intellectual disability.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717959021.793477259 ◽

2013 ◽

Author(s):

Sharon Plon

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Severe Intellectual Disability

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Faculty Opinions recommendation of Diagnostic exome sequencing in persons with severe intellectual disability.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717959021.793463476 ◽

2012 ◽

Author(s):

Sue Malcolm

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Severe Intellectual Disability

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Faculty Opinions recommendation of Diagnostic exome sequencing in persons with severe intellectual disability.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717959021.793462523 ◽

2012 ◽

Author(s):

R Frank Kooy

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Severe Intellectual Disability

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Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure

Gynecological Endocrinology ◽

10.1080/09513590.2021.1916458 ◽

2021 ◽

pp. 1-6

Author(s):

Ancong Wang ◽

Shan Huang ◽

Min Liu ◽

Baosong Wang ◽

Fengxia Wu ◽

...

Keyword(s):

Exome Sequencing ◽

Compound Heterozygous ◽

Fertilization Failure ◽

Infertile Women ◽

Clinical Exome Sequencing ◽

Compound Heterozygous Mutations

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Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Obstetrical & Gynecological Survey ◽

10.1097/01.ogx.0000428160.59063.a6 ◽

2013 ◽

Vol 68 (3) ◽

pp. 191-193 ◽

Cited By ~ 2

Author(s):

Joep de Ligt ◽

Marjolein H. Willemsen ◽

Bregje W. M. van Bon ◽

Tjitske Kleefstra ◽

Helger G. Yntema ◽

...

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Severe Intellectual Disability

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Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia

Journal of the Neurological Sciences ◽

10.1016/j.jns.2013.09.004 ◽

2013 ◽

Vol 335 (1-2) ◽

pp. 112-117 ◽

Cited By ~ 4

Author(s):

Wei Zhao ◽

Qing-Yan Zhu ◽

Jia-Tang Zhang ◽

Hui Liu ◽

Li-Juan Wang ◽

...

Keyword(s):

Exome Sequencing ◽

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Spastic Paraplegia ◽

Compound Heterozygous Mutations

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RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

Journal of Pediatric Genetics ◽

10.1055/s-0040-1722288 ◽

2021 ◽

Author(s):

J Fonseca ◽

C Melo ◽

C Ferreira ◽

M Sampaio ◽

R Sousa ◽

...

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Status Epilepticus ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epileptic Encephalopathy ◽

Btb Domain ◽

Pathogenic Variants ◽

Severe Intellectual Disability ◽

Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

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Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

BMJ Case Reports ◽

10.1136/bcr-2021-244641 ◽

2021 ◽

Vol 14 (10) ◽

pp. e244641

Author(s):

Petya Bogdanova-Mihaylova ◽

Patricia McNamara ◽

Sarah Burton-Jones ◽

Sinéad M Murphy

Keyword(s):

Corpus Callosum ◽

Autosomal Recessive ◽

Sensory Neuropathy ◽

Rare Condition ◽

Compound Heterozygous ◽

Sensorimotor Neuropathy ◽

Autosomal Recessive Condition ◽

Solute Carrier ◽

Compound Heterozygous Mutations ◽

Clinical Phenotyping

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+–Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins with compound heterozygous mutations in SLC12A6 and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8/28 in the brother and 5/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in SLC12A6, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2017.08.002 ◽

2017 ◽

Vol 60 (12) ◽

pp. 635-638 ◽

Cited By ~ 1

Author(s):

Ryojun Takeda ◽

Masaki Takagi ◽

Hiroyuki Shinohara ◽

Hiroshi Futagawa ◽

Satoshi Narumi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Japanese Patient ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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