LRP5-linked osteoporosis- pseudoglioma syndrome mimicking isolated microphthalmia

Date

2017-03-01

Author

Ergun, Sezen Guntekin
Akay, Guvem Gumus
ERGÜN, MEHMET ALİ
PERÇİN, Ferda Emriye

Metadata

Show full item record

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Item Usage Stats

80
views

0
downloads

Microphthalmia is defined as the measurement of the total axial length of the eyeball to be below average of the two standard deviation according to the age. While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this disease. After exclusion of the genes that had been known to be the cause of microphthalmia, we performed homozygosity mapping and exome sequencing to clarify the genetic etiology of the bilateral microphthalmia in this family. When the results of the exome and microarray data were considered together as a splice-site mutation in LRP5 gene [c. 2827 + 1G > A], which is known to be important for eye development and Wnt receptor signaling pathway, was found to be the cause of microphthalmia in our family.

Subject Keywords

Genetics(clinical), Genetics, General Medicine

URI

https://hdl.handle.net/11511/67409

Journal

EUROPEAN JOURNAL OF MEDICAL GENETICS

DOI

https://doi.org/10.1016/j.ejmg.2017.01.007

Collections

Department of Biology, Article

Suggestions

OpenMETU
Core

Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy Cavdarli, Busranur; Ozturk, Fatma Nihal; Guntekin Ergun, Sezen; ERGÜN, MEHMET ALİ; Dogan, Ozlem; Percin, Emriye Ferda (Mary Ann Liebert Inc, 2020-09-01) Aim:Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of SMA, screening can prevent new cases. The aim of the current study was to present the development of a new, quantitative, real-time, polymerase chain reaction (PCR)-based screening test that uses an intelligent ratio (IR) for analyses, as ...
Biochemical characterization of recombinant 20s proteasome from thermoplasma volcanium and cloning of it's regulatory subunit gene Baydar, Gözde; Kocabıyık, Semra; Department of Biotechnology (2006) In this study, we have characterized some biochemical and electrophoretic features of recombinant 20S Proteasome from a thermoacidophilic archaeon Thermoplasma volcanium. As revealed by SDS-PAGE the 20S Proteasome was composed of two subunits, ?- and β- subunits with estimated molecular masses of 24 kDa and 23 kDa, respectively. The highest chymotryptic activity was observed over an alkaline pH range (pH 8.0 ا pH 9.0) and the optimum temperature for the activity was determined as 85oC. The heat stability of...
Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome KAYHAN, GÜLSÜM; ERGÜN, MEHMET ALİ; Ergun, Sezen Guntekin; KULA, SERDAR; PERÇİN, Ferda Emriye (Mary Ann Liebert Inc, 2018-07-26) Background: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.
Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets Duzkale, Neslihan; EYERCİ, NİLNUR; Oksuzoglu, Berna; Teker, Taner; Kandemir, Olcay (Elsevier BV, 2020-04-01) BRCA1/2 genes with high-penetrance are tumor suppressor and tumor susceptibility genes that play important roles in the homologous recombination mechanism in DNA repair and increase breast cancer risk. Variants in BRCA1 or BRCA2 are the main causes of familial and early-onset breast cancer. This study investigated pathogenic variant belonging to the BRCA2 gene splice region in monozygotic triplets. A 44-year-old woman was diagnosed with breast cancer when she was 32 years old. Her monozygotic sister had a h...
ALLELE FREQUENCIES OF MP6D-9 AND GATT MARKERS IN 32 TURKISH CYSTIC-FIBROSIS FAMILIES OZGUC, M; YILMAZ, E; ERDEM, H; COSKUN, T; OZCELIK, U; Togan, İnci Zehra; GOCMEN, A; AYTER, S; OZALP, I (Wiley, 1994-05-01) The allele frequency of GATT and Mp6D-9 markers was investigated in 32 cystic fibrosis (CF) families. The GATT6 allele was found to be significantly associated with the DELTAF508 mutation. The Mp6D-9 allele 2/GATT6 haplotype was the major haplotype of the mutant alleles. Further analysis of CF alleles for population-specific mutations is underway so that a more direct approach can be taken, especially for families seeking prenatal diagnosis.

Citation Formats

S. G. Ergun, G. G. Akay, M. A. ERGÜN, and F. E. PERÇİN, “LRP5-linked osteoporosis- pseudoglioma syndrome mimicking isolated microphthalmia,” EUROPEAN JOURNAL OF MEDICAL GENETICS, pp. 200–204, 2017, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/67409.