First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene

2019 ◽  
Vol 44 (5) ◽  
pp. e205-e208
Author(s):  
L. Wang ◽  
Y. Deng ◽  
X.-L. Zhou ◽  
J. J. Ma ◽  
W. Li
Keyword(s):  
Novel Mutation ◽  
First Case ◽  
Crebbp Gene

scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Review Of Literature ◽  
First Case ◽  
Type 3

scholarly journals Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F

2019 ◽  
Vol 48 (2) ◽  
pp. 030006051986206
Author(s):  
Yu-hui Chen ◽  
Hua Zhang ◽  
Ling-bing Meng ◽  
Xiao-yan Tang ◽  
Tao Gong ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patients ◽  
Homozygous Mutation ◽  
Hereditary Neuropathy ◽  
Limb Weakness ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Levels ◽  
First Case

Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene ( PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot, and the absence of deep tendon reflexes. To date, dozens of reports of PRX mutations have been published worldwide, but none have been reported in Chinese patients. Here, we describe a 14-year-old Chinese boy with neuropathy characterized by slowly progressive limb weakness and atrophy, as well as sensory ataxia, whose cerebrospinal protein levels were 1627 mg/L. Genetic analysis identified a novel homozygous mutation, c.1174C>T (p.R392X), in exon 6 of PRX, which is the first case of its kind recorded in China.

scholarly journals Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 177S-183S ◽  
Author(s):  
Hideaki Moteki ◽  
Hela Azaiez ◽  
Kevin T. Booth ◽  
Mitsuru Hattori ◽  
Ai Sato ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Myopathy ◽  
Massively Parallel Sequencing ◽  
Novel Mutation ◽  
Massively Parallel ◽  
Nonsyndromic Hearing Loss ◽  
Potential Explanation ◽  
Atp Production ◽  
First Case ◽  
Targeted Genomic Enrichment

Objectives: We present a family with a mitochondrial DNA 3243A>G mutation resulting in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), of which some members have hearing loss in which a novel mutation in the P2RX2 gene was identified. Methods: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic causes of hearing loss. Results: A novel mutation in the P2RX2 gene that corresponded to c.601G>A (p.Asp201Tyr) was identified. Two patients carried the mutation and had severe sensorineural hearing loss, while other members with MELAS (who did not carry the P2RX2 mutation) had normal hearing. Conclusion: This is the first case report of a diagnosis of hearing loss caused by P2RX2 mutation in patients with MELAS. A potential explanation is that a decrease in adenosine triphosphate (ATP) production due to MELAS with a mitochondrial 3243A>G mutation might suppress activation of P2X2 receptors. We also suggest that hearing loss caused by the P2RX2 mutation might be influenced by the decrease in ATP production due to MELAS.

scholarly journals Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Ibtihal Benhsaien ◽  
Fatima Ailal ◽  
Khadija Elazhary ◽  
Jalila El bakkouri ◽  
Abdallah Badou ◽  
...  
Keyword(s):  
Opportunistic Infections ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Failure To Thrive ◽  
Lymphocyte Subpopulation ◽  
Combined Immunodeficiency ◽  
Hematopoietic Stem ◽  
Her Family ◽  
First Case ◽  
Rag2 Gene

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

2020 ◽  
Vol 33 (1) ◽  
pp. 157-163 ◽  
Author(s):  
Melis Demir Köse ◽  
Mehtap Kagnici ◽  
Taha Reşit Özdemir ◽  
Cahit Barış Erdur ◽  
Gülin Erdemir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Case Series ◽  
Clinical Findings ◽  
First Case ◽  
Age Related ◽  
Citrin Deficiency ◽  
Turkish Patients

AbstractBackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

scholarly journals A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review

2020 ◽  
Vol 7 (8) ◽  
Author(s):  
Yu Qing Cai ◽  
HangHu Zhang ◽  
Xiang Zhi Wang ◽  
ChengYun Xu ◽  
Yun Qi Chao ◽  
...  
Keyword(s):  
Case Report ◽  
Mhc Class Ii ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Class Ii ◽  
Homozygous Mutation ◽  
Primary Immunodeficiency Disorder ◽  
Mhc Ii ◽  
First Case ◽  
Rfxank Gene

Abstract Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5), RFX-associated protein (RFXAP), and RFXAP-containing ankyrin repeat (RFXANK), respectively. Mutations in the RFXANK gene account for >70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in the RFXANK gene (c.337 + 1G>C). The boy was admitted to the hospital due to pneumonia and diarrhea at 4 months of age. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, which derived from the c.337 + 1G>C heterozygous mutations in the RFXANK gene of his parents. The boy died 3 months after diagnosis. More than 200 cases have been reported, and a review of the literature revealed different mutation rates of 4 transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also describe all gene mutations that cause MHC II deficiency and the epidemiology of MHC II deficiency with gene mutations in this paper.

A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype

2016 ◽  
Vol 29 (3) ◽  
Author(s):  
Fan Tong ◽  
Rulai Yang ◽  
Fang Hong ◽  
Guling Qian ◽  
Pingping Jiang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Chinese Population ◽  
Novel Mutation ◽  
Total Bile Acid ◽  
Glutamyl Endopeptidase ◽  
Compound Heterozygous ◽  
Normal Range ◽  
Powdered Milk ◽  
First Case ◽  
Compound Heterozygous Mutations

AbstractThe aim of the study was to investigate the incidence and genotype-phenotype characteristics of UDP-galactose-4′-epimerase (GALE) deficiency in newborn screening of Chinese population.Neonates were screened at the Newborn Screening Center of Zhejiang Province, China for GALE deficiency and their condition was confirmed by testing of theA total of 350,023 of newborns were screened; of which, the condition of one female neonate was diagnosed with GALE deficiency, accounting for an incidence rate of approximately 1:350,000 in our sample. The patient with GALE deficiency clinically manifested slight increase in levels of blood galactose (122–251 mg/L), glutamyl endopeptidase (61 U/L), total bile acid (17 μmol/L), and lactic acid (1.8 mmol/L). The neonate was fed with lactose-free powdered milk and followed-up to 1 year. Re-examination showed that all biochemical indicators recovered to normal range, whereas physical and mental development appeared normal without cataract change. The genotype of GALE deficiency was identified as compound heterozygous mutations: c.505C>T (p.R169W) and c.452G>A (p.G151D). The latter was a novel mutation. The GALE enzyme value was 42% of control.GALE deficiency is relatively rare in China. The genotype of compound heterozygous mutations at R169W and G151D clinically manifest as mild-type; it is recommended to limit galactose diet.

Sign in / Sign up

Export Citation Format

Share Document