scholarly journals Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Ozgul Bulut ◽  
Zeynep Ince ◽  
Umut Altunoglu ◽  
Sukran Yildirim ◽  
Asuman Coban
Keyword(s):  
Literature Review ◽  
Autosomal Dominant ◽  
De Novo ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomalies ◽  
Patient Report ◽  
Autosomal Dominant Disorder ◽  
Turkish Patient ◽  
Increased Risk ◽  
Risk Of Malignancy

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.

scholarly journals A CASE OF TREACHER COLLINS SYNDROME

2013 ◽  
Vol 16 (2) ◽  
pp. 77-80
Author(s):  
S. Ulusal ◽  
H. Gürkan ◽  
Ü. Vatansever ◽  
K. Kürkçü ◽  
H. Tozkir ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Craniofacial Development ◽  
Treacher Collins Syndrome ◽  
Autosomal Dominant Disorder ◽  
Turkish Patient ◽  
Live Births

ABSTRACT Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation

scholarly journals A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome

2020 ◽  
Vol 50 (7) ◽  
pp. 826-829
Author(s):  
Yosuke Miyahara ◽  
Hideyuki Ishida ◽  
Koichi Kawabe ◽  
Hiroyuki Eto ◽  
Toyotaka Kasai ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Dominant ◽  
Hyperplastic Polyps ◽  
Autosomal Dominant Disorder ◽  
Polyposis Syndrome ◽  
Japanese Family ◽  
Germline Variant ◽  
Juvenile Polyps ◽  
Increased Risk ◽  
Cancer Syndromes

Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In HMPS, four different germline BMPR1A variants from five unrelated families have been reported. This study is the first to report HMPS within a Japanese family. The proband underwent repeated colonoscopic polypectomies over a 5-year period, since the age of 67. Histological examination of these resected polyps revealed adenomas, juvenile-like polyps and hyperplastic changes. Genetic testing was conducted to identify the causative genes for hereditary gastrointestinal cancer syndromes, including BMPR1A. We detected a germline variant, c.72_73delGA, in BMPR1A. The proband’s elder brother, younger sister and nephew have also undergone repeated colonoscopic polypectomies at other clinics. His sister and nephew underwent genetic testing, and the same BMPR1A variant was identified.

scholarly journals De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Angela Mauro ◽  
Ebun Omoyinmi ◽  
Neil James Sebire ◽  
Angela Barnicoat ◽  
Paul Brogan
Keyword(s):  
De Novo ◽  
Cowden Syndrome ◽  
Cancer Surveillance ◽  
Cutaneous Vasculitis ◽  
De Novo Mutation ◽  
Proteus Syndrome ◽  
Targeted Next Generation Sequencing ◽  
Tensin Homolog ◽  
Increased Risk ◽  
Risk Of Malignancy

Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations. We describe a case of PHTS syndrome caused by a de novo mutation in PTEN detected using a targeted next generation sequencing (NGS) gene panel which was instigated for workup of cutaneous vasculitis. We highlight the diagnostic utility of this approach and that mutations in PTEN may be associated with immune-dysregulatory features such as vasculitis in young children.

scholarly journals Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome

2021 ◽  
pp. 1-9
Author(s):  
Khaled Refaat ◽  
Nivine Helmy ◽  
Mohamed Elawady ◽  
Mona El Ruby ◽  
Alaa Kamel ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Autosomal Dominant ◽  
De Novo ◽  
Pulmonary Arteries ◽  
Hirschsprung Disease ◽  
Research Centre ◽  
Chromosomal Microarray ◽  
Facial Dysmorphism ◽  
Dysmorphic Features ◽  
Human Cytogenetics

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the ZEB2 gene. Here, we report on an Egyptian MWS patient diagnosed by chromosomal microarray (CMA). A 1-year-old male child was referred to the CHD clinic, National Research Centre, presenting with dysmorphic features and CHD. The patient was referred to the human cytogenetics department for cytogenetic analysis and for screening of subtelomere rearrangements and microdeletion loci, using MLPA, and all revealed normal results. CMA revealed an interstitial 2.27-Mb microdeletion in chromosome 2q, involving the entire ZEB2 gene and other genes. This study emphasizes the significance of CMA in the detection of microdeletions/microduplications and as a screening tool in cases presenting with CHD and extracardiac manifestations. MWS should be suspected in patients presenting with the characteristic facial dysmorphism, developmental delay, seizures, Hirschsprung disease, and congenital heart anomalies, especially those involving the pulmonary arteries or pulmonary valves. It is recommended to include the ZEB2 locus in the MLPA microdeletions probes.

scholarly journals A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

2021 ◽  
Author(s):  
David Mengel ◽  
Andreas Traschütz ◽  
Selina Reich ◽  
Alejandra Leyva-Gutiérrez ◽  
Friedemann Bender ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
De Novo ◽  
Family Members ◽  
Start Codon ◽  
Mrna Levels ◽  
Adult Onset ◽  
Loss Of Function ◽  
Autosomal Dominant Disorder

Abstract Background Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurrence of a heterozygous STUB1 variant, we here present additional qualitative evidence for STUB1-disease as an autosomal-dominant disorder. Methods Whole exome sequencing on an index patient with sporadic early-onset ataxia, followed by Sanger sequencing in all family members, was used to identify causative variants as well as to rule out alternative genetic hits and intronic STUB1 variants. STUB1 mRNA and protein levels in PBMCs in all family members were analysed using qRT-PCR and Western Blot. Results A previously unreported start-lost loss-of-function variant c.3G>A in the start codon of STUB1 was identified in the index case, occurring de novo and without evidence for a second (potentially missed) variant (e.g., intronic or copy number) in STUB1. The patient showed an early adult-onset multisystemic ataxia complicated by spastic gait disorder, distal myoclonus and cognitive dysfunction, thus closely mirroring the systems affected in autosomal-recessive STUB1-associated disease. In line with the predicted start-lost effect of the variant, functional investigations demonstrated markedly reduced STUB1 protein expression in PBMCs, whereas mRNA levels were intact. Conclusion De novo occurrence of the loss-of-function STUB1 variant in our case with multisystemic ataxia provides a qualitatively additional line of evidence for STUB1-disease as an autosomal-dominant disorder, in which the same neurological systems are affected as in its autosomal-recessive counterpart. Moreover, this finding adds support for loss-of-function as a mechanism underlying autosomal-dominant STUB1-disease, thus mirroring its autosomal-recessive counterpart also in terms of the underlying mutational mechanism.

scholarly journals Acute intestinal obstruction in Peutz Jeghers syndrome: a case report

2021 ◽  
Vol 8 (10) ◽  
pp. 3168
Author(s):  
Gajendra Anuragi ◽  
Afroz I. Bagwan ◽  
Ramprakash V. S. ◽  
Sugumar C. ◽  
Naganath B. O. Lakshmanamoorthy
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Acute Intestinal Obstruction ◽  
Hamartomatous Polyp ◽  
Male And Female ◽  
Increased Risk ◽  
Risk Of Malignancy ◽  
Peutz Jeghers Syndrome

Peutz Jeghers syndrome is an autosomal dominant hereditary disorder affecting male and female equally. It is characterised by mucocutaneous hyperpigmentation and hamartomatous polyp in gastrointestinal tract with increased risk of malignancy. We report here a case of 52-year-old patient with traits of Peutz jeghers syndrome presented with acute intestinal obstruction following colocolic intussusception. Peutz jeghers syndrome is an autosomal dominant inherited disorder. Individual may present in rare case with acute intestinal obstruction associated with intussusception due to polyps.

scholarly journals New case of Baraitzer-Winter Cerebrofrontofacial syndrome due to p.Ile136Val mutation in ACTB gene

2019 ◽  
pp. 44-50
Author(s):  
А.А. Гусина ◽  
С. Л. Куликова ◽  
В.Д. Кулак ◽  
Н.Б. Гусина
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Direct Sequencing ◽  
Gene Sequencing ◽  
Hereditary Disease ◽  
Facial Dysmorphism ◽  
Missense Mutations ◽  
Healthy Siblings ◽  
Almost All ◽  
The Brain

Введение. Синдром Барайтсера-Винтера (BWCFF) - очень редкое аутосомно-доминантное наследственное заболевание, обусловленное мутациями в генах ACTB и ACTG1. Практически все известные случаи этого заболевания обусловлены миссенс-мутациями в генах ACTB и ACTG1, возникшими de novo. В этой работе представлен новый случай синдрома BWCFF, обусловленный мутацией p.Ile136Val в гене ACTB. Пациенты и методы. Пробанд - мальчик 6 лет 8 месяцев, из двойни. Фенотип пациента анализировали с использованием приложения Face2Gene. Пробанду и всем членам его семьи проведено секвенирование 1-4 экзонов и прилежащих интронных последовательностей гена ACTB. Результаты. У пробанда отмечены характерные симптомы BWCFF: постнатальная пограничная микроцефалия, специфические дизморфии, колобомы радужной оболочки обоих глаз, короткая шея с крыловидными складками, эпилепсия, врожденный порок сердца. В отличие от большинства случаев синдрома у пациента отсутствовали задержка интеллектуального развития, а также грубые изменения коры или других структур головного мозга. В результате секвенирования экзонов гена АСТВ у пациента была выявлена замена с.406A>G (p.Ile136Val, rs1554329352) в гетерозиготном состоянии. У родителей пробанда и здоровых сибсов мутация не была обнаружена. Заключение. Использование современных технологий фенотипирования позволило предположить клинический диагноз, провести эффективный целенаправленный поиск мутаций в гене ACTB и диагностировать новый случай синдрома BWCFF. Introduction Baraitser-Winter Syndrome (BWCFF) is a very rare autosomal dominant hereditary disease caused by mutations in the ACTB and ACTG1 genes. Almost all known cases of this disease are caused by de novo missense mutations in the ACTB and ACTG1. In this paper we present a new case of BWCFF syndrome, due to p.Ile136Val mutation in the ACTB gene. Patients and methods. Proband - a boy, 6 years 8 months, out of twins. The patient’s phenotype was analyzed using the Face2Gene application. Direct sequencing of 1-4 exons and the adjacent intron sequences of the ACTB gene was performed in proband and all members of his family. Results. The proband has characteristic symptoms of BWCFF: postnatal borderline microcephaly, facial dysmorphism, iris colobomas of both eyes, short, webbed neck, epilepsy, congenital heart defect. Unlike most cases of the syndrome the patient does not have developmental delay and gross changes in the cortex or other structures of the brain. ACTB gene sequencing resulted in detection of heterozygous missense mutation p.406A> G (p.Ile136Val, rs1554329352) in proband. This mutation was not found in his parents and healthy siblings. Conclusion The use of modern phenotyping technologies allowed us to suggest the correct clinical diagnosis, to conduct an effective targeted search for mutations in the ACTB gene and diagnose a new case of BWCFF syndrome.

Prenatal diagnosis of Apert syndrome

2018 ◽  
Author(s):  
N.P. Veropotvelyan , D.I. Laylo , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Other ◽  
Lower Limbs ◽  
Apert Syndrome ◽  
Type I ◽  
Autosomal Dominant Disorder ◽  
Nasal Bridge ◽  
Skull Shape

Apert syndrome is a rare monogenic autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly of the upper and lower limbs. De novo case with Apert synclrome fetus was detected prenatally at 19–20 weeks of gestation when echography showed next pathognomic signs: an abnormal skull shape, frontal bossing, mild pachygyria, severe hypertelorism bilateral exophthalmos, deep nasal bridge, short upturned nose, prognathia, long filtrum, mild microgenia and ful syndactyly of the feet and hands. Differential diagnosis with other acrocephalosyndactyly types was performed. It is considered, that this is the earliest term of this syndrom prenatal diagnosis in a low risk pregnancies with unimpaired family history. By the parents desire this pregnancy was terminated and subsequent autopsy confirmed the diagnosis of Apert syndrome (acrocephalosyndactyly — type I) one of the hands looks like mitten the other one has the bucket shape.

scholarly journals A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Kiichi Takahashi ◽  
Hiroyuki Adachi ◽  
Manatomo Toyono ◽  
Masato Ito ◽  
Akie Kato ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Renal Cysts ◽  
Ventricular Septal Defects ◽  
Autosomal Dominant Disorder ◽  
Septal Defects ◽  
Pathogenic Variants

Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydronephrosis and/or multiple renal cysts. More than half of patients with GPS have congenital heart defects, mostly atrial and/or ventricular septal defects, patent foramen ovale, and patent ductus arteriosus. We report a case of a Japanese neonate with a de novo heterozygous c.3769_3772delTCTA pathogenic variant in the KAT6B gene who presented with a cardiac intramural cavity of the ventricular septum at birth. The cavity unexpectedly disappeared at 1 month of age, but trabecular septal thinning and flash remained. The features of the cavity were not consistent with those of congenital ventricular diverticulum or aneurysm, and its identity and prognosis are still unclear. Because patients with GPS may exhibit various forms of cardiac malformation, careful cardiac examination and follow-up are required from birth in cases of suspected GPS.

A Case of Peutz-Jeghers Syndrome With Breast Cancer, Bilateral Sex Cord Tumor With Annular Tubules, and Adenoma Malignum Caused by STK11 Gene Mutation

2009 ◽  
Vol 19 (9) ◽  
pp. 1591-1594 ◽  
Author(s):  
Aine Clements ◽  
Katina Robison ◽  
Cornelius Granai ◽  
Margaret M. Steinhoff ◽  
Jennifer Scalia-Wilbur ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Autosomal Dominant ◽  
Pelvic Mass ◽  
Gynecologic Malignancies ◽  
Autosomal Dominant Disorder ◽  
Stk11 Gene ◽  
Stromal Tumors ◽  
Increased Risk ◽  
Adenoma Malignum ◽  
Peutz Jeghers Syndrome

Background:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and women with this syndrome are at an increased risk of developing intestinal and extraintestinal malignancies including breast and gynecologic malignancies. This case report presents a patient with PJS with a concomitant breast cancer, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.Case:A 43-year-old woman presented with an advanced-stage breast cancer and a pelvic mass. The patient was treated with neoadjuvant chemotherapy followed by laparotomy with a hysterectomy and oophorectomy. Final pathologic examination revealed a concomitant breast cancer with metastasis to the ovaries, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.Conclusions:Patients with PJS are at a high risk for intestinal and extraintestinal malignancies and can present with multiple concomitant malignancies.

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