1.a case of type II lissencephaly; Walker-Earburg syndrome.
Ae Yong KIM ; Jung Ho LEE ; Yong Sub KIM ; Kyeng Sook CHO ; Jong Dai JO
Journal of the Korean Pediatric Society 1991;34(11):1598-1604
No abstract available.
Lissencephaly*
;
Walker-Warburg Syndrome
2.A case of Fukuyama type congenital muscular dystrophy.
Young Eun LEE ; Min Hyea KIM ; Keun LEE ; Eun Chul CHUNG ; Hyea Soo KOO
Journal of the Korean Pediatric Society 1992;35(10):1463-1468
No abstract available.
Intellectual Disability
;
Walker-Warburg Syndrome*
3.Prenatal diagnosis for a fetus with Walker-Warburg syndrome.
Panpan MA ; Xue CHEN ; Ling HUI ; Qinghua ZHANG ; Chuan ZHANG ; Shengju HAO ; Lan YANG ; Xing WANG ; Furong XU ; Bingbo ZHOU
Chinese Journal of Medical Genetics 2023;40(5):572-576
OBJECTIVE:
To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS).
METHODS:
A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing.
RESULTS:
The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4).
CONCLUSION
Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.
Pregnancy
;
Child
;
Female
;
Humans
;
Walker-Warburg Syndrome
;
Prenatal Diagnosis
;
Fetus
;
Genetic Counseling
;
Genomics
;
Mutation
4.MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report.
Jeonghyun YOO ; Yookyung KIM ; Haesoo KOO ; Ki Deuk PARK
Journal of the Korean Radiological Society 2000;43(5):629-633
Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.
Biopsy
;
Brain
;
Creatine Kinase
;
Diagnosis
;
Japan
;
Magnetic Resonance Imaging*
;
Malformations of Cortical Development
;
Muscle Hypotonia
;
Muscular Dystrophies
;
Walker-Warburg Syndrome*
5.A Case of Walker-Warburg Syndrome Presented with Seizures.
Seong Koo KIM ; Jin Young LEE ; Young Hoon KIM ; In Goo LEE
Journal of the Korean Child Neurology Society 2010;18(2):332-337
Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures. In 1942, Walker was the first to report a case of WWS. As Fukuyama congenital muscular dystrophy or muscle-eye-brain disorder, it has been demonstrated that the glycosylation defects of alpha-dystroglycan which take a great role in muscle and neuron regeneration are at the root of these disorders. We report a five months old male patient who was presented with seizures as the chief complaint and was diagnosed with WWS, based on clinical criteria, MRI, muscular biopsy, ocular examination, and laboratory findings.
Biopsy
;
Brain
;
Dystroglycans
;
Glycosylation
;
Humans
;
Hydrocephalus
;
Intellectual Disability
;
Lissencephaly
;
Male
;
Muscles
;
Muscular Dystrophies
;
Neurons
;
Regeneration
;
Retinaldehyde
;
Seizures
;
Walker-Warburg Syndrome
6.Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report.
Young Mi HAN ; Na Rae LEE ; Mi Hye BAE ; Kyung Hee PARK ; Jin Hong SHIN ; Dae Seong KIM ; Shin Yun BYUN
Neonatal Medicine 2016;23(3):173-177
This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in MDCMD. A neonate presented hypotonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. Although these findings suggested Fukuyama muscular dystrophy, muscle biopsy showed dystrophic changes and an absence of merosin staining. We found that compound heterozygous mutation for c.2049_2050delAG (p.R683fs) and c.5866-2A>G in the LAMA2 gene which encodes Laminin-α2. To our knowledge, this is the second Korean case of MDCMD with polymicrogyria and subcortical heterotopias. This case shows that a range of brain structural malformations can be found in children with MDCMD and that the classification of congenital muscular dystrophy (CMD) is not complete yet, as indicated previously in reports suggesting other unclassified forms of CMD.
Biopsy
;
Brain
;
Child
;
Classical Lissencephalies and Subcortical Band Heterotopias
;
Classification
;
Creatine Kinase
;
Humans
;
Infant, Newborn
;
Laminin
;
Magnetic Resonance Imaging
;
Muscle Hypotonia
;
Muscular Dystrophies*
;
Occipital Lobe
;
Polymicrogyria*
;
Walker-Warburg Syndrome
7.A Case of Fukuyama Congenital Muscular Dystrophy.
June HUH ; Ki Joong KIM ; Tae Sung KO ; Dong Wook KIM ; Se Hee HWANG ; Yong Seung HWANG ; In One KIM ; Je Geun CHI
Journal of the Korean Neurological Association 1992;10(3):388-394
Fukuyama congenital muscular dystrophy, first described by Fukuyama et al. In 1960, is an autosomal recessively inherited muscular dystrophy associated with severe mental retardation. We experienced a case of Fukuyama congenital muscular dystrophy in a 4 year and 11 month old girl, who showed hypotonia at birth, muscle weakness, contractures of both ankle joints, severe mental retardation, elevated muscle enzymes, myopathic EMG findings, dystrophic features on muscle biopsy, and agyria-pachygyria complex with heterotopia of gray matter on brain MRI. To our knowledge, Fukuyama congenital musclar dystrophy has not yet been reported in Korea.
Ankle Joint
;
Biopsy
;
Brain
;
Contracture
;
Female
;
Humans
;
Infant
;
Intellectual Disability
;
Korea
;
Magnetic Resonance Imaging
;
Muscle Hypotonia
;
Muscle Weakness
;
Muscular Dystrophies
;
Parturition
;
Walker-Warburg Syndrome*
8.Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene.
Li'na ZENG ; Li LIN ; Yan ZHANG ; Kun LIN ; Qing XU ; Congshan LIN
Chinese Journal of Medical Genetics 2023;40(7):802-806
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with recurrent fetal hydrocephalus.
METHODS:
A couple who had presented at the Affiliated Hospital of Putian College on March 3, 2021 was selected as the study subject. Following elective abortion, fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple, and were subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
RESULTS:
The fetus was found to harbor compound heterozygous variants of the B3GALNT2 gene, namely c.261-2A>G and c.536T>C (p.Leu179Pro), which were inherited from its father and mother, respectively.According to the guidelines of American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM2_Supporting; PM3+PM2_Supporting+PP3+PP4).
CONCLUSION
The compound heterozygous variants of the B3GALNT2 gene probably underlay the α-dystroglycanopathy in this fetus. Above results have provided a basis for genetic counseling of this pedigree.
Female
;
Humans
;
Pregnancy
;
Aborted Fetus
;
Asian People/genetics*
;
East Asian People
;
Fetus
;
Genetic Counseling
;
Mutation
;
N-Acetylgalactosaminyltransferases
;
Pedigree
;
Walker-Warburg Syndrome/genetics*
9.Clinical and mutation analysis of a Chinese family with muscle eye brain disease.
Hui JIAO ; Hui XIONG ; Yan-zhi ZHANG ; Shuo WANG ; Yan-ling YANG ; Xi-ru WU
Chinese Journal of Medical Genetics 2011;28(5):481-484
OBJECTIVETo study the clinical feature of a Chinese family with muscle-eye-brain disease (MEB) and the mutation of protein O-linked-mannose beta-1, 2-N-acetylglucosaminyltransferase 1 gene (POMGNT1).
METHODSClinical data of the proband and his family members were collected. Genomic DNA from the patient and his parents was extracted using standard procedures from the peripheral blood leukocytes. Polymerase chain reaction and DNA direct sequencing were employed to analyze all of the exons to determine the mutation, and the relationship between genotype and phenotype was analyzed.
RESULTSThe proband was diagnosed as floppy baby, presented with delayed psychomotor development and myopathic face. His serum creatine kinase (CK) level elevated moderately and brain MRI showed cerebral and cerebellar gyrus abnormalities with white matter signal intensity changes, cerebellar cysts and cerebellar and brain stem hypoplasia, consistent with congenital muscular dystrophy with eye brain disorder. Further test with DNA detected a compound heterozygous mutation of c.1896 1 G to C before exon 22 which may induce splicing error, and missense mutation c.1319T to G, p.L440R in exon 16. Both parents had a heterozygous mutation at the mutation sites.
CONCLUSIONAccording to our study, the family is diagnosed as MEB. The proband carried compound heterozygous mutations in the POMGNT1 gene, and his parents are heterozygous carriers, which is consistent with autosomal recessive inheritance. The child is definitely diagnosed as having muscle eye brain disease.
Adult ; Amino Acid Sequence ; Asian Continental Ancestry Group ; Base Sequence ; Brain ; pathology ; Child, Preschool ; Exons ; genetics ; Female ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Molecular Sequence Data ; Mutation ; genetics ; N-Acetylglucosaminyltransferases ; genetics ; Phenotype ; Sequence Alignment ; Walker-Warburg Syndrome ; diagnosis ; genetics
10.Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy.
Xiaona FU ; Aijie LIU ; Haipo YANG ; Cuijie WEI ; Juan DING ; Shuang WANG ; Jingmin WANG ; Yun YUAN ; Yuwu JIANG ; Hui XIONG
Chinese Journal of Pediatrics 2015;53(10):741-746
OBJECTIVETo elucidate the usefulness of next generation sequencing for diagnosis of inherited myopathy, and to analyze the relevance between clinical phenotype and genotype in inherited myopathy.
METHODRelated genes were selected for SureSelect target enrichment system kit (Panel Version 1 and Panel Version 2). A total of 134 patients who were diagnosed as inherited myopathy clinically underwent next generation sequencing in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2014. Clinical information and gene detection result of the patients were collected and analyzed.
RESULTSeventy-seven of 134 patients (89 males and 45 females, visiting ages from 6-month-old to 26-year-old, average visiting age was 6 years and 1 month) underwent next generation sequencing by Panel Version 1 in 2013, and 57 patients underwent next generation sequencing by Panel Version 2 in 2014. The gene detection revealed that 74 patients had pathogenic gene mutations, and the positive rate of genetic diagnosis was 55.22%. One patient was diagnosed as metabolic myopathy. Five patients were diagnosed as congenital myopathy; 68 were diagnosed as muscular dystrophy, including 22 with congenital muscular dystrophy 1A (MDC1A), 11 with Ullrich congenital muscular dystrophy (UCMD), 6 with Bethlem myopathy (BM), 12 with Duchenne muscular dystrophy (DMD) caused by point mutations in DMD gene, 5 with LMNA-related congenital muscular dystrophy (L-CMD), 1 with Emery-Dreifuss muscular dystrophy (EDMD), 7 with alpha-dystroglycanopathy (α-DG) patients, and 4 with limb-girdle muscular dystrophy (LGMD) patients.
CONCLUSIONNext generation sequencing plays an important role in diagnosis of inherited myopathy. Clinical and biological information analysis was essential for screening pathogenic gene of inherited myopathy.
Adolescent ; Child ; Child, Preschool ; Contracture ; DNA Mutational Analysis ; Female ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genetic Testing ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Molecular Diagnostic Techniques ; Muscular Diseases ; diagnosis ; genetics ; Muscular Dystrophies ; congenital ; Muscular Dystrophies, Limb-Girdle ; Muscular Dystrophy, Duchenne ; Muscular Dystrophy, Emery-Dreifuss ; Mutation ; Phenotype ; Sclerosis ; Walker-Warburg Syndrome ; Young Adult