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Thiels, C.* ; Fleger, M.* ; Huemer, M.-T.* ; Rodenburg, R.J.* ; Vaz, F.M.* ; Houtkooper, R.H.* ; Haack, T.B. ; Prokisch, H. ; Feichtinger, R.G.* ; Lücke, T.* ; Mayr, J.A.* ; Wortmann, S.B.*

Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation?

JIMD Rep., 89-93 (2016)

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Barth syndrome is known as a highly recognizable X-linked disorder typically presenting with the three hallmarks: (left ventricular non-compaction) cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. Furthermore, growth retardation, mild skeletal myopathy, and specific facial features as well as mitochondrial dysfunction in muscle are frequently seen. Underlying mutations are found in TAZ and lead to defective cardiolipin remodeling.Here, we report atypical clinical manifestations of TAZ mutations in two male patients initially presenting with growth retardation and very mild skeletal myopathy. As other phenotypic hallmarks were missing, Barth syndrome had not been suspected in these patients. One of them has been incidentally diagnosed in the frame of an in-depth cardiolipin research analysis, while the underlying genetic defect was unexpectedly identified in the second one by exome sequencing. CONCLUSION: These cases underline that TAZ mutations might well be an underdiagnosed cause of skeletal myopathy and growth retardation and do not necessarily manifest with the full clinical picture of Barth syndrome.

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