scholarly journals Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

2018 ◽  
Vol 21 (1) ◽  
pp. 69-72 ◽  
Author(s):  
AK Khan ◽  
SA Khan ◽  
Na Muhammad ◽  
No Muhammad ◽  
J Ahmad ◽  
...  
Keyword(s):  
Phospholipase C ◽  
Autosomal Dominant ◽  
Inheritance Pattern ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
The Family ◽  
Characteristic Features ◽  
Hands And Feet ◽  
First Time ◽  
Toe Nails

AbstractHuman hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, δ1 (PLCD1), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of DNA detected a p.Cys209Arg mutation, reported for the first time in a Pakistani Pashtun family.

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

scholarly journals Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

2019 ◽  
Vol 09 (02) ◽  
pp. 117-120
Author(s):  
Pavalan Selvam ◽  
Shekhar Singh ◽  
Angita Jain ◽  
Herjot Atwal ◽  
Paldeep S. Atwal
Keyword(s):  
Sequence Analysis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Pathogenic Variants ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
The Family ◽  
Type Xi Collagen ◽  
Exome Sequence

AbstractOtospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum.

scholarly journals Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature

2015 ◽  
Vol 6 (2) ◽  
pp. 251-259
Author(s):  
Chia Lee Hsu ◽  
Christopher J. Layton
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Autosomal Dominant ◽  
Optic Disc Pit ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Mother And Daughter ◽  
Dominant Disease ◽  
Familial Disorders ◽  
Optic Nerve Coloboma

Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

Mallacoota carinacera sp. nov., a new amphipod species of the family Maeridae (Hadzioidea, Senticaudata) from Micronesia

Crustaceana ◽  
2015 ◽  
Vol 88 (5) ◽  
pp. 551-566
Author(s):  
Tae Won Jung ◽  
Kon-Tak Yoon ◽  
Soo-Jin Heo ◽  
Do-Hyung Kang
Keyword(s):  
Related Species ◽  
Amphipod Species ◽  
Federated States Of Micronesia ◽  
The Family ◽  
Characteristic Features ◽  
First Time

Mallacootacarinacerasp. nov., a new amphipod species of the family Maeridae, collected from Weno Island, Chuuk, Federated States of Micronesia, is described for the first time, with a detailed description and illustrations, and characteristic features between related species are discussed.

Benign Familial Macrocephaly: Report of a Family and Review of the Literature

PEDIATRICS ◽  
1976 ◽  
Vol 57 (4) ◽  
pp. 535-539
Author(s):  
Alexander J. Asch ◽  
Gary J. Myers
Keyword(s):  
Autosomal Dominant ◽  
Ventricular Dilatation ◽  
Neurological Deficits ◽  
Incomplete Penetrance ◽  
Inheritance Pattern ◽  
Review Of The Literature ◽  
Normal Intelligence ◽  
Two Generations ◽  
The Mean

Five members in two generations of one family were found to have occipitofrontal head circumferences more than 2 SD above the mean. All five had normal intelligence and neurological examinations. Three of the five had ventricular dilatation by A-mode echoencephalography. The inheritance pattern of macrocephaly in this family appears to be autosomal dominant with incomplete penetrance. Possible causes of the macrocephaly in this family are discussed and the reported cases of macrocephaly with normal intelligence and no neurological deficits are reviewed.

TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy

2016 ◽  
Vol 54 (2) ◽  
Author(s):  
Cui-Mei Zhao ◽  
Bing-Sun ◽  
Hao-Ming Song ◽  
Juan Wang ◽  
Wen-Jun Xu ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Loss Of Function ◽  
Coding Regions ◽  
Complete Penetrance ◽  
Familial Dilated Cardiomyopathy ◽  
Genetic Components ◽  
Synergistic Activation ◽  
Autosomal Dominant Fashion ◽  
The Family ◽  
First Time

AbstractDilated cardiomyopathy (DCM) is a major cause of congestive heart failure, sudden cardiac death and cardiac transplantation. Aggregating evidence highlights the genetic origin of DCM. However, DCM is a genetically heterogeneous disorder, and the genetic components underlying DCM in most cases remain unknown.The coding regions and splicing junction sites of theA novel heterozygous TBX20 mutation, p.F256I, was identified in a family with DCM transmitted in an autosomal dominant fashion, which co-segregated with DCM in the family with complete penetrance. The missense mutation was absent in 600 control chromosomes and the altered amino acid was completely conserved evolutionarily among various species. Functional assays revealed that the mutant TBX20 had significantly diminished transcriptional activity. Furthermore, the mutation markedly reduced the synergistic activation of TBX20 with NKX2-5 or GATA4.This study links TBX20 loss-of-function mutation to idiopathic DCM in humans for the first time, providing novel insight into the molecular mechanism underpinning DCM.

scholarly journals Evaluation of Gene Variants in TGFB1, SERPINF1 and MEPE in a Spanish Family Affected by Otosclerosis and Tinnitus

Bionatura ◽  
2020 ◽  
Vol 5 (1) ◽  
pp. 1050-1055
Author(s):  
Francisco J. Álvarez ◽  
Pedro García ◽  
Jesús Alonso ◽  
Santiago Álvarez
Keyword(s):  
Autosomal Dominant ◽  
Association Studies ◽  
Point Mutations ◽  
Genetic Association Studies ◽  
Small Indels ◽  
Familial Form ◽  
Autosomal Dominant Fashion ◽  
The Family ◽  
Spanish Family

Otosclerosis (OTSC) is a common type of deafness affecting up to 0.4 % of Caucasians. Its familial form is inherited in an autosomal dominant fashion, although to this date, no definitive cause for OTSC has been found. In the development of OTSC, three recent genetic association studies have suggested the participation of particular point mutations and small indels in the TGFB1, SERPINF1, and MEPE genes. Consequently, replicative studies are needed to confirm the role of the proposed mutations in OTSC patients. The goal of this study was to test the presence of the candidate variants described in the genes TGFB1, SERPINF1, and MEPE in a new case of familial OTSC with seven affected individuals. DNA was extracted from saliva samples of a Spanish family with several members affected by OTSC. PCR amplified target regions of some candidate genes, and the products were purified, Sanger-sequenced, and analyzed in silico. The family subject of the study did not carry the candidate variants for OTSC described in the genes TGFB1, SERPINF1, and MEPE, although it cannot be ruled out the involvement of other mutations in genes related to their same signaling pathways. This result highlights the importance of performing replicative studies for complex diseases, such as OTCS, in families of diverse origins. Additionally, a significant association of subjective tinnitus with OTSC has been found in this family, although the link between the two pathologies should be studied further.

scholarly journals Terrestrial planarians (Platyhelminthes, Tricladida, Terricola) from the Iberian peninsula: first records of the family Rhynchodemidae, with the description of a new Microplana species

1998 ◽  
Vol 67 (4) ◽  
pp. 267-276 ◽  
Author(s):  
Eduardo Mateos ◽  
Gonzalo Giribet ◽  
Salvador Carranza
Keyword(s):  
Molecular Markers ◽  
Molecular Marker ◽  
Iberian Peninsula ◽  
Species Level ◽  
Bursa Copulatrix ◽  
The Family ◽  
Spanish Pyrenees ◽  
Characteristic Features ◽  
First Time ◽  
Land Planarian

The first records of terrestrial planarians belonging to the family Rhynchodemidae are reported for the Iberian Peninsula. A new endemic species from the Spanish Pyrenees, Microplana Nana sp. nov., is described. The characteristic features of this species are: i) small size (8-10 mm) in adult individuals, ii) very long conical penis papilla and iii) absence of seminal vesicle, bursa copulatrix, genito-intestinal duct, and well-developed penial bulb. Moreover, the widespread common European land planarian Microplana terrestris (Müller, 1774) is reported for the first time from the Iberian Peninsula. The two species, M. nana sp. nov. and M. terrestris, are described by means of external morphology using histological sections, and have been characterized by the ITS-1 molecular marker. The study of molecular markers such as ITS-1 is proposed as a powerful technique for identification at the species level in terrestrial planarians.

Buried Narratives: Exhuming the Mother's Story in Oliver Twist

2018 ◽  
Vol 8 (3) ◽  
pp. 247-266
Author(s):  
Michelle L. Wilson
Keyword(s):  
Social Change ◽  
Maternal Inheritance ◽  
The Novel ◽  
Poor Law ◽  
The Family ◽  
The Law ◽  
First Time ◽  
Critical Consideration

Initially, Oliver Twist (1839) might seem representative of the archetypal male social plot, following an orphan and finding him a place by discovering the father and settling the boy within his inheritance. But Agnes Fleming haunts this narrative, undoing its neat, linear transmission. This reconsideration of maternal inheritance and plot in the novel occurs against the backdrop of legal and social change. I extend the critical consideration of the novel's relationship to the New Poor Law by thinking about its reflection on the bastardy clauses. And here, of course, is where the mother enters. Under the bastardy clauses, the responsibility for economic maintenance of bastard children was, for the first time, legally assigned to the mother, relieving the father of any and all obligation. Oliver Twist manages to critique the bastardy clauses for their release of the father, while simultaneously embracing the placement of the mother at the head of the family line. Both Oliver and the novel thus suggest that it is the mother's story that matters, her name through which we find our own. And by containing both plots – that of the father and the mother – Oliver Twist reveals the violence implicit in traditional modes of inheritance in the novel and under the law.

Faktor-Faktor Determinan yang melatar belakangi Kehamilan Remaja di Desa Pandansari Kecamatan Poncokusumo Kabupaten Malang

2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih
Keyword(s):  
Sex Education ◽  
Teen Pregnancy ◽  
Teenage Pregnancy ◽  
Well Being ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
The Family ◽  
History Of ◽  
First Time

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.

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