col4a1 syndrome life expectancy

doi: 10.1212/WNL.0b013e3181c3fd12, 9. When this enzyme is elevated, it is a sign of muscle damage. Fax: 203-263-9938, Washington, DC Office The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and review of the literature. 2007 Aug;62(2):177-84. doi: 10.1002/ana.21191. The brain MRI of IV-6 disclosed a large right-sided frontoparietal cavity (Figure 3B) with communication to the lateral ventricle, isosignal to CFS. Neurologic phenotypes associated with COL4A1/2 mutations Clinical spectrum of type IV collagen (COL4A1) mutations: a novel Brain magnetic resonance imaging (MRI) scans were carried out on a three Tesla Brain MRI (Achieva, Ingenia; Philips Healthcare, Best, The Netherlands). Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M GC. (No doctor had ever taken a call on their lunch break to speak with me). She also showed severe hypermetropia. However, there are exceptions that depend on precisely when and where the mutation arose. Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. If the mutation arises after fertilization, then some cells will carry the mutation and others will not this is called mosaicism. They are typically characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting . These proteins have very restricted expression and Alport Syndrome primarily affects the kidneys with variable involvement of the eye and cochlea (hearing). One year later, right hemiparesis became clinically evident with a lack of right voluntary hand prehension in association with right hemineglect. Neurology. ), A variety of rare genetic disorders may have symptoms similar to those found in COL4A1/A2-related disorders. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13.

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