Article / Research Article

"Assessment of Genetics Mutations in KCNH1,ATP6V1B2,KCNB1 Genesto Zimmermann-Laband Syndrome in Human"

Shahin Asadi*, Mahsa Jamali, ManoushTohidirad, HamidehMohammadzadeh, MahyaFatahi

Division of Medical Genetics and Molecular Research, Molecular Genetics-IRAN-TABRIZ, Iran

*Corresponding author:Shahin Asadi, Division of Medical Genetics and Molecular Research, Molecular Genetics-IRAN-TABRIZ, Iran. Tel+989379923364;Email: shahin.asadi1985@gmail.com

Received Date: 15December, 2017; Accepted Date:12January, 2018; Published Date:22January, 2018

1.      Abstract

In this study we have analyzed 30 people. 10 patientsZimmermann-Laband syndrome and 20 persons control group.The genes KCNH1,ATP6V1B2,KCNB1 analyzed in terms of genetic mutations made. In this study, people who have genetic mutations were targeted, Zimmermann-Laband syndrome. In fact, of all people with Zimmermann-Laband syndrome. 10 patients Zimmermann-Laband syndrome had a genetic mutation in the genes KCNH1,ATP6V1B2 Zimmermann-Laband syndrome. Any genetic mutations in the target genes control group, did not show.

2.      Keywords:Genetic Study;Mutations; Gene; KCNH1; ATP6V1B2; KCNB1Real Time PCR; Zimmermann-Laband Syndrome

1.      Introduction

Laband syndrome, also known as Zimmerman-Laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may affect the ability to chew, swallow, and/or speak. In addition, affected infants may exhibit abnormally long, thin fingers and toes and/or deformed (dysplastic) or absent nails at birth. In some cases, mental retardation may also be present. In most cases, Laband syndrome is believed to be inherited as an autosomal dominant trait. However, evidence of autosomal recessive inheritance has also been reportedFigure 1 [1].

1.1.  Signs & Symptoms

Laband syndrome is an extremely rare genetic disorder characterized by abnormalities of the head and face (craniofacial) area and the fingers and toes, particularly the thumbs and great toes. Abnormalities affecting the fingers and toes may be apparent at birth (congenital); other symptoms may not become apparent until later during childhood. The range and severity of symptoms vary from case to case[2].

Most children with Laband syndrome develop abnormally large gums (gingival fibromatosis). Overgrowth (hypertrophy) of the gums may cause delayed eruption of teeth. Complications resulting from gingival fibromatosis may include teeth that do not meet properly (malocclusion), chewing (mastication) problems, excessive drooling (salivation), difficulty swallowing, the development of sores at the corners of the mouth, repeated gum infections, abnormal dryness of the mouth (xerostomia), premature loss (exfoliation) of teeth, and/or speech problems. In some cases, as affected children age, the gums may completely cover the teeth and protrude from the mouth[3].

Individuals with Laband syndrome may also exhibit facial abnormalities that may become apparent during early childhood and progress throughout adolescence. These may include an abnormally narrow facial appearance and/or overgrowth of the tongue, lips, nose, and/or ears. The nose may appear rounded or large (bulbous). The cartilage of the ears and nose may also be abnormally soft. In addition, some children with this disorder may exhibit excessive hair growth (hypertrichosis) [4].

In most cases, individuals with Laband syndrome also have malformations of the hands and feet including abnormally long, slender fingers and toes (arachnodactyly) that may be large and swollen at the tips (distal phalanges). In some cases, the bones of the fingertips may be malformed and/or the joints of the fingers and hands (metacarpophalangeal joints) may be unusually flexible (hyperextensive)Figure 2. In addition, the nails of the hands and feet, particularly the thumbs and great toes, may be malformed (dysplastic) or absent [5].

In some cases, individuals with Laband syndrome may exhibit other physical characteristics including additional skeletal abnormalities, spinal abnormalities, and an unusually large liver (hepatomegaly) or, less commonly, spleen (splenomegaly). Normal intelligence occurs in some cases; mental retardation ranging from mild to severe has been reported in others[6].

2.      Materials and Methods

In this study,10 patients with Zimmermann-Laband syndromeand 20 persons control group were studied. Peripheral blood samples from patients and parents with written permission control was prepared.After separation of serum, using Real Time-PCR technique of tRNA molecules were collected. To isolate Neuroglial cells erythrocytes were precipitated from Hydroxyethyl Starch (HES) was used. At this stage, HES solutionin ratio of 1to5with the peripheral blood of patients and controls were mixed.After 60 minutes of incubation at room temperature, the supernatant was removed and centrifuged for 14 minutes at 400 Gera. The cells sediment with PBS (phosphate buffered saline), pipetazh and slowly soluble carbohydrate ratio of 1to2 on ficole (Ficol) was poured in the 480G was centrifuged for 34 minutes.Mono nuclear Neuroglial cells also are included,has lower density than ficole and soon which they are based.The remaining erythrocytes has a molecular weight greater than ficoleand depositedin test tubes.

The supernatant, which contained the mono nuclear cells was removed, and the 400 Gera was centrifuged for 12 minutes. Finally, the sediment cell, the antibody and Neuroglial cells was added after 34 minutes incubation at 5 °C, the cell mixture was passed from pillar LSMACS. Then the cells were washed with PBS and attached to the column LSMACSS pam Stem cell culture medium containing the transcription genes KCNH1,ATP6V1B2,KCNB1 and were kept.

3.      Results

4.      Discussion and Conclusion

According to the results of sequencing the genome of patients with Zimmermann-Laband syndrome, and the genetic mutations KCNH1,ATP6V1B2,KCNB1 genes found that about 100% of patients with Zimmermann-Laband syndrome, they have this genetic mutation. Patients with Zimmermann-Laband syndrome, unusual and frightening images in the process of Zimmermann-Laband syndrome, experience. Lot epigenetic factors involved in Zimmermann-Laband syndrome. But the most prominent factor to induce Zimmermann-Laband syndrome, mutations is KCNH1,ATP6V1B2,KCNB1 genes.This genes can create the birth and can also be created in the adulthood.


Figure 1: Zimmerman-Laband syndrome has an autosomal dominant pattern of inheritance.




Figure 2: The image of the overexploitation of human gums with Zimmermann-Laband syndrome.



Figure 3: Schematic of genetic mutations in KCNH1 and ATP6V1B2 genes in patients with Zimmermann-Laband syndrome.



Figure 4: Schematic of genetic mutations in KCNH1 and ATP6V1B2 genes in patients with Zimmermann-Laband syndrome, along with informatics diagrams.



Figure 5: Image of KCNH1 gene bands pattern in agarose gel.



Figure 6: Schematic of genetic mutations in KCNH1 and KCNB1 genes in patients with Zimmermann-Laband syndrome, along with informatics diagrams.



Citation:Asadi S, Jamali M, Tohidirad M, Mohammadzadeh H, FatahiM (2018) Assessment of Genetics Mutations in KCNH1, ATP6V1B2,KCNB1 Genes to Zimmermann-Laband Syndrome in Human. Adv Biochem Biotehcnol: ABIO-153.DOI: 10.29011/2574-7258.000053