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A new mutation of the fukutin gene in a non‐Japanese patient
Author(s) -
Silan Fatma,
Yoshioka Mieko,
Kobayashi Kazuhiro,
Simsek Enver,
Tunc Murat,
Alper Murat,
Cam Meryem,
Guven Aysel,
Fukuda Yoji,
Kinoshita Moritoshi,
Kocabay Kenan,
Toda Tatsushi
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10491
Subject(s) - congenital muscular dystrophy , lissencephaly , mutation , muscular dystrophy , genetics , exon , medicine , gene mutation , gene , biology
Fukuyama‐type congenital muscular dystrophy (FCMD), Walker–Warburg syndrome, and muscle‐eye‐brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non‐Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan. Ann Neurol 2003