scholarly journals Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation

2021 ◽  
Vol 67 (3) ◽  
pp. 68-72
Author(s):  
D. A. Khabibullina ◽  
N. Yu. Kalinchenko ◽  
S. V. Egorova ◽  
E. V. Vasilyev ◽  
V. M. Petrov ◽  
...  
Keyword(s):  
Clinical Features ◽  
Wide Spectrum ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Charge Syndrome ◽  
Molecular Genetic Analysis ◽  
Familial Case ◽  
Correct Treatment ◽  
Clinical Criteria

CHARGE syndrome is a rare autosomal dominant disease caused by CHD7 gene mutations. Individuals with CHARGE display a wide spectrum of clinical features. It might be presented only as a delay puberty, which does not require any hormone replacement therapy to severe CHARGE phenotype, requiring a multidisciplinary therapeutic approach. Wild spectrum of clinical presentation can be seen even among the patients with identical mutation. Diagnosis might be suspected by a combination of major and minor clinical criteria of this disorder, but molecular genetic analysis is mandatory for final verification. Accurate diagnosis is essential to informing patients about all possible clinical features, reproductive status and choosing the correct treatment approach. The most common endocrine abnormality in patients with CHARGE syndrome is the disturbance in gonadotropins function ranged from delay puberty to persistent hypogonadotropic hypogonadism with different olfactory phenotypes, resulted by specific role of CHD7 in GnRH neuronal embryogenesis.We describe a familial case of CHARGE syndrome with significant intrafamilial clinical heterogeneity due to CHD7 gene mutation.

Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

2021 ◽  
Vol 14 (6) ◽  
pp. e243415
Author(s):  
Phudit Jatavan ◽  
Theera Tongsong ◽  
Kuntharee Traisrisilp
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Clinical Findings ◽  
Serum Biomarkers ◽  
Provisional Diagnosis ◽  
Unique Case ◽  
Clinical Criteria ◽  
Placental Mesenchymal Dysplasia

We describe a unique case of Beckwith-Wiedemann syndrome (BWS). A 29-year-old woman with ultrasound and clinical findings, specific to BWS is described. Important insights gained from this study are as follows: (1) quad test may be very useful to increase awareness of BWS. This is the first report, which demonstrated that elevated inhibin-A is related to BWS. Unexplained elevation of serum biomarkers, especially all the four markers, should raise awareness of BWS. (2) Early provisional diagnosis in this case was based on the findings of omphalocele, placental mesenchymal dysplasia and abnormal quad test. (3) Follow-up scans are important for late-occurring supportive findings, such as macroglossia, ear abnormalities and visceromegaly. (4) BWS is strongly associated with preeclampsia, which tended to be more severe and of earlier-onset. (5) Molecular genetic analysis is helpful, but not always necessary in cases of fulfilment of clinical criteria like in this case.

Muir-Torre syndrome: clinical features and molecular genetic analysis

1997 ◽  
Vol 136 (6) ◽  
pp. 913-917 ◽  
Author(s):  
C. ESCHE ◽  
R. KRUSE ◽  
C. LAMBERTI ◽  
W. FRIEDL ◽  
P. PROPPING ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Muir-Torre syndrome: clinical features and molecular genetic analysis

1997 ◽  
Vol 136 (6) ◽  
pp. 913-917 ◽  
Author(s):  
C. ESCHE ◽  
R. KRUSE ◽  
C. LAMBERTI ◽  
W. FRIEDL ◽  
P. PROPPING ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

scholarly journals Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing

2020 ◽  
Author(s):  
Kitiwan Rojnueangit ◽  
Thanitchet Khetkham ◽  
Preyaporn Onsod ◽  
Takol Chareonsirisuthigul
Keyword(s):  
Clinical Features ◽  
Molecular Genetic ◽  
Group Versus ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Clinical Criteria ◽  
Physical Examinations ◽  
Criteria For Diagnosis ◽  
Dependent Probe

AbstractThe 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome with a wide variety of clinical features. However, as there are no clinical criteria for diagnosis, confirmation is solely done by genetic tests if clinicians recognize the syndrome. Therefore, we aimed to identify clinical features that may help clinicians recognize 22q11.2 DS. Participants with at least two anomalies were enrolled, complete patient history and physical examinations were performed, then multiplex ligation-dependent probe amplification (MLPA) analysis for 22q11.2 DS was utilized. We identified 11/48 (23%) cases with 22q11.2 DS. Palatal anomalies, hypocalcemia, and ≥3 affected body systems were highly significant presentations in the 22q11.2 DS group versus the group without deletion (p < 0.05). Therefore, a comprehensive physical examination is crucial at identifying any subtle features which may lead to testing and a definite diagnosis.

scholarly journals Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene

2018 ◽  
Vol 64 (1) ◽  
pp. 38-41
Author(s):  
Maria V. Gerasimova ◽  
Natalya U. Kalinchenko ◽  
Evgeniy V. Vasiliev ◽  
Vasiliy M. Petrov ◽  
Anatoly N. Tiulpakov
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Familial Case ◽  
Genetic Diagnostics ◽  
Heterozygous Mutation ◽  
High Concentration ◽  
Molecular Genetic Study ◽  
Monogenic Diseases ◽  
Fgfr1 Gene

Congenital isolated hypogonadotropic hypogonadism refers to a group of predominantly monogenic diseases associated with impaired production, secretion, and/or action of the gonadotropin-releasing hormone (GnRH), which leads to a pronounced delay or absence of puberty. Clinical and genetic heterogeneity is typical of this group of diseases. To date, about 30 candidate genes associated with the development of various forms of secondary hypogonadism are known. Congenital hypogonadotropic hypogonadism can be verified only using molecular genetic diagnostics. The correct diagnosis is necessary for predicting the disease course and choosing the proper approach for managing the patient. We describe a familial case of normosmic hypogonadotropic hypogonadism and late puberty associated with a mutation in the FGFR1 gene. The case is interesting because of pronounced phenotypic manifestations and their high concentration in the proband’s family history. Also of interest is the phenotype untypical of mutations in this gene. The molecular genetic study was performed using new generation sequencing with the authors’ panel of primers and a PGM semiconductor sequencer (Ion Torrent). The Sanger method was used to confirm the identified mutation and examine the proband’s relative. In both patients, a heterozygous mutation in the FGFR1 gene, previously described in Kallmann syndrome, was detected.

scholarly journals Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

1999 ◽  
Vol 65 (5) ◽  
pp. 1279-1290 ◽  
Author(s):  
Carol Hardy ◽  
Farhat Khanim ◽  
Rosarelis Torres ◽  
Martin Scott-Brown ◽  
Anneke Seller ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Wide Spectrum ◽  
Molecular Genetic ◽  
Wolfram Syndrome ◽  
Molecular Genetic Analysis

scholarly journals Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

2020 ◽  
Vol 23 (1) ◽  
pp. 95-98
Author(s):  
M Tajir ◽  
J Lyahyai ◽  
S Guaoua ◽  
M El Alloussi ◽  
A Sefiani
Keyword(s):  
Missense Mutation ◽  
Clinical Features ◽  
Protein Interactions ◽  
Cleft Lip ◽  
Molecular Genetic ◽  
Sweat Glands ◽  
Protein Protein Interactions ◽  
Clinical Criteria ◽  
Sam Domain ◽  
Cleft Lip Palate

AbstractAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with typical eyelid fusion in addition to a cleft lip and/or palate. The diagnosis is based on clinical criteria and molecular genetic testing of TP63 gene, the gene related to AEC syndrome. In this context, most reported mutations induce an amino acid change in the sterile alpha motif (SAM) domain, and are predicted to disrupt protein-protein interactions. We here describe the case of a 2-year-old Moroccan girl diagnosed with AEC syndrome on the basis of clinical features. The molecular studies and bioinformatics tools revealed a novel heterozygous missense mutation c.1798G>C (p.Gly600Arg) in exon 14 of the TP63 gene, that was not found in her parents. The molecular analysis and the early diagnosis of this syndrome are important to offer appropriate genetic counseling and management to patients and their families.

scholarly journals Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

Genetika ◽  
2017 ◽  
Vol 49 (2) ◽  
pp. 559-572
Author(s):  
Jelena Filipovic-Trickovic ◽  
Vesna Mandusic ◽  
Ivana Joksic ◽  
Dragana Vujic ◽  
Ana Valenta-Sobot ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
In Silico ◽  
Wide Spectrum ◽  
Molecular Genetic ◽  
In Silico Analysis ◽  
Molecular Genetic Analysis ◽  
Sequence Variants ◽  
Inherited Disease ◽  
Progressive Pancytopenia ◽  
Silico Analysis

Fanconi anemia is rare inherited disease characterized by wide spectrum of congenital anomalies, progressive pancytopenia, and predisposition to hematological malignancies and solid tumors. Molecular genetic analysis of mutations in FANC genes is of a great importance for diagnosis confirmation, prenatal and carrier testing, as well as for prediction of chemotherapy outcome and disease complications. In this study we performed screening of frequently affected regions of FANCD2 gene for sequence variants in six unrelated FA-D2 patients in Serbia. This is the first molecular analysis of FANCD2 gene in Serbian FA-D2 patients. A total of 10 sequence variants were detected, one in homozygous, and nine in heterozygous state. Two variants were found within exons, and eight within introns, in deep intronic regions. In-silico analysis showed that among all detected variants one exon variant and three intron variants might have impact on splicing mechanism. Heterozygous variants found in intron 3, c.206-246delG; exon 26, c.2396 C>A and intron 28, c.2715+573 C>T were not previously reported. In-silico analysis revealed that among them, two (intron 3, c.206-246 delG and exon 26, c.2396 C>A) could be novel disease-causing mutations. Many variants were found in more than one patient, including those unreported, indicating their possible ethnic association. Great number of variants in some patients suggests their non-random emergence in Fanconi anemia pathway.

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