NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY
S Shalaby, YK Hayashi, I Nonaka, S Noguchi… - Neurology, 2009 - AAN Enterprises
S Shalaby, YK Hayashi, I Nonaka, S Noguchi, I Nishino
Neurology, 2009•AAN EnterprisesMethods. All clinical materials used in this study were obtained for diagnostic purpose with
informed consent. Patient 1 and patient 2 have fatal infantile form, 2, 3 and patient 3 has
adult-onset form. 4 Patients 4 (son) and 5 (his mother) had familial cases. 5 We directly
sequenced all exons and their flanking intronic regions of FHL1 in the five RBM patients and
250 Japanese controls. Frozen muscle specimens were examined by immunohistochemistry
and immunoblotting using standard technique. Results. We identified four novel mutations in …
informed consent. Patient 1 and patient 2 have fatal infantile form, 2, 3 and patient 3 has
adult-onset form. 4 Patients 4 (son) and 5 (his mother) had familial cases. 5 We directly
sequenced all exons and their flanking intronic regions of FHL1 in the five RBM patients and
250 Japanese controls. Frozen muscle specimens were examined by immunohistochemistry
and immunoblotting using standard technique. Results. We identified four novel mutations in …
Methods.
All clinical materials used in this study were obtained for diagnostic purpose with informed consent. Patient 1 and patient 2 have fatal infantile form, 2, 3 and patient 3 has adult-onset form. 4 Patients 4 (son) and 5 (his mother) had familial cases. 5 We directly sequenced all exons and their flanking intronic regions of FHL1 in the five RBM patients and 250 Japanese controls. Frozen muscle specimens were examined by immunohistochemistry and immunoblotting using standard technique.
Results.
We identified four novel mutations in FHL1: a heterozygous missense mutation of c. 449G> A (p. C150Y) in patient 1 and c. 302G> T (p. C101F) in patient 2, an in-frame 9 bp deletion at c. 304-312delAAGGGGTGC (p. 102-104delKFC) in patient 3, and a hemizygous mutation c. 310T> C (p. C104R) in patient 4. The mother (patient 5) had the same mutation in heterozygous mode. All mutations we identified are located in the second LIM domain of FHL1 (figure e-1 on the Neurology® Web site at www. neurology. org).
American Academy of Neurology