scholarly journals Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Mehmet Gunduz ◽  
Ozlem Unal
Keyword(s):  
Gene Mutation ◽  
Clinical Characteristics ◽  
Metabolic Diseases ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Global Developmental Delay ◽  
Facial Features ◽  
Peroxisomal Disorders ◽  
Elevated Liver Enzymes ◽  
Ophthalmologic Examination

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).

MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases

2015 ◽  
Vol 52 (Suppl 1) ◽  
pp. A1.2-A1
Author(s):  
Lauren Chad ◽  
Brian HY Chung ◽  
Christian R Marshall ◽  
Daniele Merico ◽  
Riyana Babul-Hirji ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gene Mutation ◽  
Global Developmental Delay ◽  
Facial Features

scholarly journals Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy

2013 ◽  
Vol 54 (3) ◽  
pp. 578 ◽  
Author(s):  
Jae Eun Sim ◽  
Hyung-Jun Park ◽  
Ha Young Shin ◽  
Tai-Seung Nam ◽  
Seung Min Kim ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Characteristics ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Korean Patients ◽  
Gne Myopathy

CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA

Retina ◽  
2020 ◽  
Vol 40 (11) ◽  
pp. 2240-2253 ◽  
Author(s):  
Xiaoxu Han ◽  
Shijing Wu ◽  
Hui Li ◽  
Tian Zhu ◽  
Xing Wei ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Characteristics ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chinese Patients

Schinzel—Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis

2018 ◽  
Vol 17 (03) ◽  
pp. 125-127
Author(s):  
Jana Neupauerová ◽  
Katalin Štěrbová ◽  
Vladimír Komárek ◽  
Andrea Gřegořová ◽  
Markéta Vlčková ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Sanger Sequencing ◽  
De Novo ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Facial Features ◽  
De Novo Mutations ◽  
Whole Exome ◽  
Exon 4

AbstractSchinzel–Giedion syndrome (SGS) is a very rare genetic disorder characterized by distinctive facial features, severe developmental delay, seizures, and skeletal abnormalities. Whole exome sequencing, Sanger sequencing, and correlation with already published variants and cases allowed us to identify two different de novo mutations in the SETBP1 gene: NM_015559.2 (SETBP1): c.2601C > G (p.Ser867Arg) and c. 2608 G > A (p.Gly870Ser) in two Czech patients presenting with SGS features. Both mutations are within exon 4 of SETBP1, supporting the notion that exon 4 represents the mutation hotspot of the gene in patients with SGS.

scholarly journals HEREDITARY DIFFUSE GASTRIC CANCER: GENETIC ASPECTS AND PROPHYLACTIC TOTAL GASTRECTOMY

2018 ◽  
Vol 17 (4) ◽  
pp. 48-52
Author(s):  
L. N. Lyubchenko ◽  
M. G. Filippova ◽  
O. A. Anurova ◽  
P. B. Nazliev ◽  
I. S. Stilidi
Keyword(s):  
Gastric Cancer ◽  
Total Gastrectomy ◽  
Gene Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
Cdh1 Gene ◽  
Prophylactic Gastrectomy ◽  
Risk Of Cancer

For patients with an identified germline E-cadherin-1 (CDH1) mutation, prophylactic gastrectomy is the treatment of choice to eliminate the high risk of developing diffuse gastric  cancer. The case report describes a rare case of hereditary diffuse gastric cancer (HDGC)  associated with CDH1 gene mutation, which is reported in the Russian population for the first  time. In 2013, a 28-year- old woman was referred to Clinical Oncogenetics Laboratory with a  family history of gastric cancer. Molecular genetic analysis revealed CDH1 gene mutation. The  lifetime risk of cancer in mutation positive members is more than 80. Histological examination  of gastric biopsy specimens obtained during endoscopy revealed isolated signet ring cells in the  lamina propria. Spleenpreserving D2-lymphodissection and total gastrectomy with Roux-en-Y  reconstruction with a jejunal reservoir formation were performed at the Abdominal Oncology Surgery Department.

A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome

2021 ◽  
Author(s):  
Rojan Ipek ◽  
Sevcan Tug Bozdogan ◽  
Mustafa Kömür ◽  
Cetin Okuyaz
Keyword(s):  
Thyroid Function ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Thyroid Function Test ◽  
Molecular Genetic Analysis ◽  
Monocarboxylate Transporter ◽  
Motor Deficit ◽  
Global Developmental Delay ◽  
Thyroid Function Tests ◽  
Severe Hypotonia

AbstractAllan–Herndon–Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the SLC16A2 gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the SLC16A2 gene has been described in the present article.

scholarly journals Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features

2021 ◽  
Vol 11 ◽  
Author(s):  
Stefan Stojanoski ◽  
Henning Bünsow Boldt ◽  
Dusko Kozic ◽  
Attila Patócs ◽  
Márta Korbonits ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Hormone Replacement ◽  
Molecular Genetic ◽  
Gamma Knife Radiosurgery ◽  
Peptide Receptor Radionuclide Therapy ◽  
Residual Tumor ◽  
Molecular Genetic Analysis ◽  
Pharmacological Therapy ◽  
Imaging Features ◽  
Malignant Paraganglioma

BackgroundParaganglioma occurs rarely in the sellar/parasellar region. Here, we report a patient with malignant paraganglioma with primary sellar location with unusual genetic and imaging features.Case PresentationA 31-year-old male presented with mild hypertension, headache, nausea, and vomiting. A sellar/parasellar tumor mass was revealed by magnetic resonance imaging (MRI), while an endocrine work-up found partial hypopituitarism, suggesting that it was a non-functioning pituitary tumor. Antihypertensive therapy and hormone replacement were initiated. Tumor reduction was achieved with transsphenoidal neurosurgery. However, histological diagnosis was not possible due to extensive tissue necrosis. After 4 years of stable disease, the residual tumor showed re-growth requiring gamma knife radiosurgery. Four years after the radiosurgery, MRI showed a significant tumor progression leading to a second neurosurgery. This time, pathological and immunohistochemical findings revealed paraganglioma. Plasma levels of metanephrine and normetanephrine were normal. A gene sequencing panel performed on DNA extracted from blood excluded germline mutations in 17 susceptibility genes. The patient developed new tumor masses in the neck, and the third surgery was performed. Immunohistochemistry demonstrated lack of ATRX (alpha thalassemia/mental retardation syndrome X-linked) protein in tumor cells, indicating an ATRX gene mutation. Molecular genetic analysis performed on tumor DNA revealed a combination of ATRX and TP53 gene abnormalities; this was not previously reported in paraganglioma. MRI and 68Ga-DOTANOC PET/CT revealed the full extent of the disease. Therapy with somatostatin LAR and 177Lu-DOTATATE Peptide Receptor Radionuclide Therapy (PRRT) was initiated.ConclusionAlthough rare, paraganglioma should be considered in the differential diagnosis of sellar/parasellar tumor lesions, even in the absence of typical imaging features. ATRX gene mutation in paraganglioma is an early predictor of malignant behavior and a potential novel therapeutic marker when pharmacological therapy targeting mutated ATRX becomes available.

Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report

2014 ◽  
Vol 155 (33) ◽  
pp. 1325-1328
Author(s):  
Gábor Vogt ◽  
Ľudevit/Lajos Kádasi ◽  
Endre Czeizel
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Molecular Genetic ◽  
Recurrence Risk ◽  
Hereditary Disease ◽  
Molecular Genetic Analysis ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
Roma Population ◽  
Cyp1b1 Gene

Primary congenital glaucoma was diagnosed in a son (born in 2009) of a healthy, non-consanguineous Roma couple. This couple terminated their next two pregnancies because of the 25% recurrence risk of this autosomal recessive ophthalmological abnormality. Molecular genetic analysis showed the homozygote E387K mutation of the CYP1B1 gene in the proband and the presence of this gene mutation in heterozygous form in both parents. This gene mutation is characteristic for Slovakian Roma population. There are two objectives of this case report. On one hand this finding indicates the genetic relationship of Slovakian and Hungarian Romas. On the other hand, the couple plans to have further pregnancies, and prenatal genetic test may help to assess the possible recurrence risk of this hereditary disease. Orv. Hetil., 2014, 155(33), 1325–1328.

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