Orphanic hereditary hypophosphatemic rachit with hypercalciuria, nephrocalcinosis on account of mutation gene SLC34A3(Review and case report)

2021 ◽  
Vol 25 (3) ◽  
pp. 52-60
Author(s):  
Zh. G. Leviashvili ◽  
N. D. Savenkova ◽  
O. V. Lyubimova ◽  
N. L. Levi ◽  
M. О. Amiryan ◽  
...  
Keyword(s):  
Sodium Phosphate ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Hypophosphatemic Rickets ◽  
Type Ii ◽  
Autosomal Recessive Mode ◽  
Phosphate Reabsorption ◽  
Inhibition Of Growth ◽  
Homozygous Mutations ◽  
Mode Of Inheritance

Orphan Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) (OMIM: 241530; ORPHA: 157215) with an autosomal recessive mode of inheritance occurs with an estimated prevalence of 1: 250,000 in the child population. HHRH was first described by M. Tieder, et al. (1985). The syndrome is caused by heterozygous or homozygous mutations in the SLC34A3 gene mapped to chromosome 9q34.3, which encodes a type II sodium phosphate cotransporter (NaPiIIc). Mutations result in loss of NaPi-IIc function and impairment of phosphate reabsorption in the proximal renal nephron. HHRH is characterized by a decrease in phosphate reabsorption in the proximal nephron tubules, manifested by hyperphosphaturia, hypercalciuria, hypophosphatemia, an increase in the concentration of 1,25(OH) 2D3, a decrease in parathyroid hormone (PTH) circulating in the blood, osteomalacia, inhibition of growth, low corrosiveness, low corrosiveness. The article presents the characteristics of the phenotype and genotype of HHRH, diagnostic criteria and treatment strategy. A description of a clinical case of HHRH with hypercalciuria, nephrocalcinosis and urolithiasis due to mutation of the SLC34A3gene is presented.

Pyloroduodenal Atresia (Diaphragm Type): An Autosomal Recessive Disease

PEDIATRICS ◽  
1978 ◽  
Vol 62 (3) ◽  
pp. 419-421
Author(s):  
Henry C. Mishalany ◽  
Ziad H. Idriss ◽  
Vazken M. Der Kaloustian
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Single Individual ◽  
Autosomal Recessive Mode ◽  
Genetic Etiology ◽  
New Evidence ◽  
Mode Of Inheritance

In 1970,1 1971,2 and 19743 we described two families, each with two siblings who had atresia of the first portion of the duodenum. The four patients were first cousins to each other. We suggested a genetic etiology with an autosomal recessive mode of inheritance, which has been accepted.4 The source of the proposed gene for both families was traced to a single individual. Recently, a third family, linked to the previous two with strong consanguineous ties, had a pair of twins affected with the same anomaly. The purpose of this article is to bring the weight of new evidence afforded by this third family to further substantiate the genetic etiology of this condition.

scholarly journals Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

2020 ◽  
pp. jmedgenet-2020-107042
Author(s):  
Chencheng Yao ◽  
Chao Yang ◽  
Liangyu Zhao ◽  
Peng Li ◽  
Ruhui Tian ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periodic Acid ◽  
Compound Heterozygous ◽  
Obstructive Azoospermia ◽  
Autosomal Recessive Mode ◽  
Loss Of Function ◽  
Meiotic Arrest ◽  
Causative Gene ◽  
Periodic Acid Schiff ◽  
Mode Of Inheritance

BackgroundThe genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear.MethodsTwo Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid–Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.ResultsWe identified compound heterozygous loss of function (LoF) variants of SHOC1 (c.C1582T:p.R528X and c.231_232del:p.L78Sfs*9, respectively) in both affected cases with NOA from family 1. In family 2, homozygous LoF variant in SHOC1 (c.1194delA:p.L400Cfs*7) was identified in the siblings with infertility. PAS, IHC and meiotic chromosomal spread analyses demonstrated that the spermatogenesis was arrested at zygotene stage in the three patients with NOA. Consistent with the autosomal recessive mode of inheritance, all of these SHOC1 variants were inherited from heterozygous parental carriers. Intriguingly, WES of 362 sporadic NOA cases revealed one additional NOA case with a bi-allelic SHOC1 LoF variant (c.1464delT:p.D489Tfs*13).ConclusionTo the best of our knowledge, this is the first report identifying SHOC1 as the causative gene for human NOA. Furthermore, our study showed an autosomal recessive mode of inheritance in the NOA caused by SHOC1 deficiency.

The Detection of Carriers in Hereditary Myoclonic Epilepsy

1960 ◽  
Vol 9 (4) ◽  
pp. 466-471 ◽  
Author(s):  
M. Bruce Sarlin ◽  
H. Warner Kloepfer ◽  
Walter A. Mickle ◽  
Robert G. Heath
Keyword(s):  
Autosomal Recessive ◽  
Similar Type ◽  
Myoclonic Epilepsy ◽  
Autosomal Recessive Mode ◽  
Negro Family ◽  
Heterozygous Carriers ◽  
Mode Of Inheritance

SummaryThree cases of hereditary myoclonic epilepsy have been observed among ten siblings in a Negro family. Electroencephalograms of the parents, three normal siblings and two of the three affected siblings have been recorded and all show abnormalities of a similar type. These are of a generalized nature revealing no focal damage. This type of abnormality has been observed in an affected male and two normal siblings by Watson and Denny-Brown.The autosomal recessive mode of inheritance observed in the present study is consistent with the transmission most frequently reported in myoclonic epilepsy. We believe that abnormal electroencephalographic patterns are associated with this gene and that these patterns may be useful in the detection of heterozygous carriers.

Genetic and Dental Study of Patients with Celiac Disease

2010 ◽  
Vol 35 (2) ◽  
pp. 217-223 ◽  
Author(s):  
Soliman Ouda ◽  
Omar Saadah ◽  
Omar El Meligy ◽  
Sumer Alaki
Keyword(s):  
Celiac Disease ◽  
Autosomal Recessive ◽  
Pedigree Analysis ◽  
Clinical Findings ◽  
Autosomal Recessive Mode ◽  
Enamel Hypoplasia ◽  
Clinical Genetic ◽  
Genetic Examination ◽  
Mode Of Inheritance ◽  
Saudi Patients

Objectives: The aim of this work was to study the pattern of inheritance of celiac disease in a group of Saudi patients and to compare oral mucosal and dental clinical findings in these patients to those of healthy controls.Study design: Fifty patients suffering from celiac disease were screened for dental evaluation. They were subjected to clinical genetic examination, pedigree construction, oral mucosal and dental clinical evaluation. Results: An autosomal recessive mode of inheritance was evident in some of the studied cases,while others showed sporadic occurrence. Oral mucosal and dental clinical examinations revealed recurrent oral ulcerations, enamel hypoplasia in most of the celiac disease patients. Conclusions: Pedigree analysis of families is important to identify the mode of inheritance. Oral mucosal and dental clinical examinations are important in diagnosing and monitoring cases of celiac disease.

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

2008 ◽  
Vol 27 (01) ◽  
pp. 1-12 ◽  
Author(s):  
D. Kabzinska ◽  
I. Hausmanowa-Petrusewicz ◽  
A. Kochanski
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Mode ◽  
Charcot Marie Tooth ◽  
Mode Of Inheritance

scholarly journals Split-hand/split-foot malformation (SHFM)

2014 ◽  
Vol 6 (1) ◽  
pp. 122-123
Author(s):  
Monojit Mondal ◽  
Kriti Sundar Rana ◽  
Nayan Banerji ◽  
Sayan Bose ◽  
Tanmoy Biswas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Mode ◽  
Medical Sciences ◽  
Limb Malformation ◽  
Median Cleft ◽  
Congenital Limb ◽  
Mode Of Inheritance

 Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur singly or in association with syndromes, former being mostly autosomal dominant but autosomal recessive variety is rare. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance DOI: http://dx.doi.org/10.3126/ajms.v6i1.10018   Asian Journal of Medical Sciences Vol.6(1) 2015 122-123  

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