Šafka Brožková Dana, Paulasová Schwabová Jaroslava, Neupauerová Jana, Sabová Jana, Krůtová Marcela, Peřina Vladimír, Trková Marie, Laššuthová Petra, Seeman Pavel
Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
J Hum Genet. 2017 Mar;62(3):431-435. doi: 10.1038/jhg.2016.148. Epub 2016 Dec 22.
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p.Arg148* mutation inherited from both parents by the autosomal recessive mechanism. But in one case, the recessive mutation was inherited only from one parent (father) and unmasked owing to an uniparental isodisomy of the entire chromosome eight. The inherited peripheral neuropathy owing to an isodisomy of the whole chromosome pointed to an interesting, less frequent possibility of recessive disease and complications with genetic counseling.
遗传性运动和感觉神经病Lom型（HMSNL），也称为CMT4D，是一种伴有迟发性耳聋的脱髓鞘性神经病，是一种威胁全球罗姆人群体的常染色体隐性疾病。在该基因被发现之前，已有多篇病例报告报道了其临床表型。HMSNL由N-Myc下游调节基因1中的纯合始祖突变p.Arg148引起。在此，我们报告来自捷克共和国的研究结果，在该国，8个家庭的12名捷克患者被发现患有HMSNL。在这12名患者中，11例病因是通过常染色体隐性机制从父母双方遗传了p.Arg148突变。但在1例中，隐性突变仅从一位家长（父亲）遗传而来，并由于整个8号染色体的单亲同二体而显现出来。由于整个染色体的同二体导致的遗传性周围神经病指出了隐性疾病和遗传咨询并发症的一种有趣且较少见的可能性。
