de Die-Smulders C E, Smeets H J, Loots W, Anten H B, Mirandolle J F, Geraedts J P, Höweler C J
Department of Clinical Genetics, Maastricht University, The Netherlands.
J Med Genet. 1997 Nov;34(11):930-3. doi: 10.1136/jmg.34.11.930.
We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult type of DM, with onset around 30 years. Only six other cases of paternal transmission of congenital DM have been reported recently. We review the sex related effects on transmission of congenital DM. Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM. Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM. We conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father.
我们报告了一例罕见的父系遗传先天性肌强直性营养不良（DM）病例。先证者是一名23岁的智力发育迟缓男性，患有严重的肌肉无力。他出生时就出现呼吸和喂养困难。他的两个同胞患有儿童期发病的DM。他们已故的父亲患有成年型DM，发病年龄约为30岁。最近仅报道了另外6例先天性DM父系遗传的病例。我们回顾了性别对先天性DM遗传的影响。成年发病的男性DM患者生育力下降以及男性遗传时重复序列的收缩，导致先天性DM几乎不存在父系遗传情况。此外，已报道的先天性受累儿童的父亲，平均而言，其CTG重复序列长度比先天性DM儿童的母亲短，因此临床症状也较轻。我们得出结论，先天性DM的父系遗传很少见，且优先发生于父亲DM发病年龄超过30岁的情况。
