Compound heterozygosity for mutations inPAX6in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
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چکیده
منابع مشابه
A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.
Becker myotonia is a recessive muscle disease with prevalence of > 1:50,000. It is caused by markedly reduced function of the chloride channel encoded by CLCN1. We describe a Polish patient with severe myotonia, transient weakness, and muscle cramps who only responds to lidocaine. In addition, the patient has Prinzmetal angina pectoris and multiple lipomatosis. He is compound heterozygeous for ...
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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 ...
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Background: Diabetes mellitus is a common metabolic disorder worldwide. It imposes excessive psychological stress on patients which negatively affect the course of the disease. The brain-behavioral systems have a role in dealing with stressful events such as chronic disorders. Objective: Comparison the brain-behavioral systems and psychological distress in diabetic patients and non-diabetics. ...
متن کاملGenetic Susceptibility to Transient and Permanent Neonatal Diabetes Mellitus
Neonatal diabetes mellitus (NDM) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. Clinically, it is categorized into two main types: transient NDM (TNDM) and permanent NDM (PNDM). These types are diagnosed based on duration of insulin dependence early in the disease. In TNDM, diabetes begins in the first few weeks of life with remission in a few months. Howev...
متن کاملActivating mutations in the ABCC8 gene in neonatal diabetes mellitus.
BACKGROUND The ATP-sensitive potassium (K(ATP)) channel, composed of the beta-cell proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6.2, is a key regulator of insulin release. It is inhibited by the binding of adenine nucleotides to subunit Kir6.2, which closes the channel, and activated by nucleotide binding or hydrolysis on SUR1, which opens the channel...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2009
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.33081