Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

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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Ablepharon macrostomia syndrome in a Thai patient: case report and literature review

Asian Biomedicine ◽

10.1515/abm-2020-0012 ◽

2020 ◽

Vol 14 (2) ◽

pp. 83-88

Author(s):

Phawin Kor-anantakul ◽

Kanya Suphapeetiporn ◽

Somchit Jaruratanasirikul

Keyword(s):

Case Report ◽

Literature Review ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Sequencing Analysis ◽

Patient Case ◽

Thai Patient ◽

Labia Minora ◽

Whole Exome ◽

Rare Congenital Disorder

AbstractAblepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 20 cases have been reported to date, and all in patients from Western countries. We report a case of AMS in a Thai patient, who presented at age 3 months with severe ectropion of both upper and lower eyelids, alopecia totalis, no palpable clitoris, and hypoplasia of both labia minora and labia majora. Trio whole exome sequencing analysis was performed, which revealed a heterozygous missense c.223G>A (p.Glu75Lys) variation in TWIST2. To our knowledge, this is the first reported case of AMS in a patient from Thailand and the first reported case of AMS in Asia.

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Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

Frontiers in Genetics ◽

10.3389/fgene.2021.684042 ◽

2021 ◽

Vol 12 ◽

Author(s):

Yu Xia ◽

Yijie Feng ◽

Lu Xu ◽

Xiaoyang Chen ◽

Feng Gao ◽

...

Keyword(s):

Case Report ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Muscular Atrophy ◽

Whole Exome

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Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers

Neuromuscular Disorders ◽

10.1016/j.nmd.2018.02.002 ◽

2018 ◽

Vol 28 (4) ◽

pp. 339-345

Author(s):

Kevin J. Felice ◽

Charles H. Whitaker ◽

Qian Wu

Keyword(s):

Case Report ◽

Literature Review ◽

Exome Sequencing ◽

Gene Mutation ◽

Whole Exome Sequencing ◽

Older Woman ◽

Diagnostic Odyssey ◽

Whole Exome ◽

Female Carriers

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Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder

Journal of Autism and Developmental Disorders ◽

10.1007/s10803-019-03951-z ◽

2019 ◽

Vol 50 (6) ◽

pp. 2247-2251 ◽

Cited By ~ 1

Author(s):

José E. García-Ortiz ◽

Ana I. Zarazúa-Niño ◽

Angélica A. Hernández-Orozco ◽

Edwin A. Reyes-Oliva ◽

Carlos E. Pérez-Ávila ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Case Report ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Whole Exome ◽

Mexican Child

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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

BMC Medical Genetics ◽

10.1186/s12881-019-0939-z ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Lara Pemberton ◽

Robert Barker ◽

Anna Cockell ◽

Vijaya Ramachandran ◽

Andrea Haworth ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Skeletal Dysplasia ◽

Genetic Disorder ◽

Specific Gene ◽

Ultrasound Images ◽

Whole Exome ◽

Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

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