Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.
نویسندگان
چکیده
PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain development in two sib fetuses whose parents were aniridic (both sporadic cases) are reported. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses. Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS.
منابع مشابه
P-26: The Effects of Interferon-Gamma onCarbamazepine-Induced Fetal Malformations inMouse Fetus
Background: One in every 250 newborns is exposed to antiepileptic drugs, inutero .The risk of congenital malformations in newborns, prenatally exposed to antiepileptic drugs (AEDs), is around 5% which is 2 to 2.5 times that of general population; while carbamazepine (CBZ) and valproate (VPA) still provide the treatment of choice in most forms of epilepsy, being efficacious in approximately two-...
متن کاملPreventive Effect of Vitamin B6 on Developmental Toxicity of Carbamazepine in Mice
Objective(s) Carbamazepine (CBZ) is an antiepileptic drug that is used widely for the treatment of epileptic seizures. Neural tube defects (NTDs), growth retardation, and nail hypoplasia are the most common features of teratogenic effects of this drug. The purpose of this study was to examine the effect of vitamin B6 on the developmental toxicity of CBZ on mice. Materials and Methods Sixty B...
متن کاملClinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations - anophthalmia and/or severe microphthalmia - seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2, OTX2, PAX6 (paired domain), STRA6, BMP4, SMOC1, FOXE3, and RAX, and genome-wide array-based copy ...
متن کاملThe occurrence of two cases of double hetrozygosity (beta-thalassemia/HbS) in thalassemia major patients in Lorestan province
Background: The simultaneous existence of two different abnormalities in a gene is referred to double heterozygosity. The most common form of it is the association of thalassemia and sickle cell disease, being termed sickle cell thalassemia. The aim of this research was to study all of the hemoglobinopathies in thalassemia major patients in Lorestan Province. Materials and methods: This st...
متن کاملمقایسه اثرات تراتوژنیک مصرف خوراکی و تزریق داخل صفاقی داروی گاباپنتین به روی سیستم اسکلتی موش‌های Balb/c با استفاده از رنگ آمیزی آلیزارین رد اس و آلسین بلو
Background & Aim: Gabapentin is a novel antiepileptic drug that is used for the treatment of partial and secondary generalized seizures. There are few and sometimes contradictory reports concerning the teratogenic effects of this drug. This study was done to compare teratogenic effects of gabapentin on skeletal system when it is used intraperitoneally and via gavages. Material and Method: I...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Folia neuropathologica
دوره 47 4 شماره
صفحات -
تاریخ انتشار 2009