Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. Br
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. Br
复制标题
与先天性鱼鳞病样红皮病相关的新型三磷酸腺苷 (ATP) 结合盒、A 亚家族、成员 12 (ABCA12) 突变。
DOI：
10.1111/j.1365-2133.2011.10516.x
复制
发表时间：
2012
期刊：
影响因子：
3.1
通讯作者：
Hashimoto T.
中科院分区：
文献类型：
--
作者：
Fukuda S;Hamada T;Ishii N;Sakaguchi S;Sakai K;Akiyama M;Shimizu H;Masuda K;Izu K;Teye K;Tsuruta D;Karashima T;Nakama T;Yasumoto S;Hashimoto T.
常染色体隐性遗传性先天性鱼鳞病是一种角化疾病，以全身脱屑为特征。ARCI是一种异质性实体，包括丑角鱼鳞病（HI，MIM 242500）、板层鱼鳞病2型（LI 2，MIM 601277）和先天性鱼鳞病样红皮病（CIE，MIM 242100）。已报道的CIE突变包括三磷酸腺苷（ATP）结合盒，亚家族A，成员12（ABCA 12），1种转氨酶1（TGM 1），2种脂氧合酶-3，12（R）-脂氧合酶，3种NIPAL 44和CYP 4F 22。5 ABCA 12的突变也导致LI 2和HI。6，7我们报道了4例不相关的日本CIE患者的ABCA 12突变，并确定了5个未报道的突变和2个复发突变。患者1是一名3岁女孩，具有全身性红皮病、睑外翻、唇外翻、严重耳畸形和脱发（图1a-c）。她的姐姐也出现类似症状，在脱水和感染后死亡。患者2是一名9岁女孩，患有红皮病皮肤上的全身鳞屑、轻度眼睑外翻、前额脱发和轻度耳廓畸形。她的妹妹在严重的皮肤症状和随后的并发症后死亡。患者3是一名4个月大的男孩，出生时为火棉胶婴儿，全身鳞片发白，皮肤泛红。没有家族病史。患者4是一名3个月大的男孩，出生时为火棉胶婴儿，在轻度红皮病皮肤上具有泛发性白色鳞屑（图1d，e）。无睑外翻、睑外翻及耳廓畸形。没有家族病史。所有患者的病理表现为角化过度，轻度棘皮增生和血管周围淋巴细胞浸润。我们最初检查了ABCA 12突变，因为ABCA 12突变在日本CIE患者中频繁发现。为了分析ABCA 12基因，如先前报道的，用53对引物扩增聚合酶链反应（PCR）片段。6我们发现了5个未报道的突变和2个复发突变（表1）。患者1具有错义/小缺失突变的复合杂合性[（p.Thr1575Pro）+（c. 6031delG）]。患者2和3具有错义/剪接位点突变的复合杂合性[（p.Arg986Trp）+（c. 5940-1G> C），（p. Asn1380Ser）+（c. 5128+ 3A> G）。患者4为复合杂合子
MADAM, Autosomal recessive congenital ichthyosis (ARCI) is a keratinization disorder, characterized by general desquamation. ARCI is a heterogeneous entity, including harlequin ichthyosis (HI, MIM 242500), lamellar ichthyosis type 2 (LI2, MIM 601277) and congenital ichthyosiform erythroderma (CIE, MIM 242100). The reported mutations in CIE include adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12), 1 transglutaminase 1 (TGM1), 2 lipoxygenase-3, 12 (R)-lipoxygenase, 3 NIPAL44 and CYP4F22. 5 Mutations in ABCA12 also result in LI2 and HI. 6, 7 We report ABCA12 mutations in four unrelated Japanese patients with CIE and identified five unreported and two recurrent mutations.Patient 1 is a 3-year-old girl with generalized scales on erythroderma, ectropion, eclabium, severely deformed ears and alopecia (Fig. 1a–c). Her elder sister displayed similar symptoms and died after dehydration and infection. Patient 2 is a 9-year-old girl with generalized scales on an erythrodermic skin, mild ectropion, alopecia of the forehead and mild auricular malformation. Her younger sister died after severe skin symptoms and subsequent complications. Patient 3 is a 4-month-old boy, born as a collodion baby, with systemic whitish scales and generalized erythrodermic skin. There is no family history. Patient 4 is a 3-month-old boy, born as a collodion baby, with generalized whitish scales on a mild erythrodermic skin (Fig. 1d, e). Ectropion, eclabium and auricular malformation were not seen. There is no family history. Pathological findings of all patients revealed hyperkeratosis, mild acanthosis and perivascular lymphocytic infiltration. We initially examined for ABCA12 mutation, because ABCA12 mutations have been found frequently in Japanese patients with CIE. For analysis of the ABCA12 gene, polymerase chain reaction (PCR) fragments were amplified with 53 primer pairs, as previously reported. 6 We identified five unreported and two recurrent mutations (Table 1). Patient 1 had compound heterozygosity of missense⁄ small deletion mutations [(p. Thr1575Pro)+(c. 6031delG)]. Patients 2 and 3 had compound heterozygosity of missense⁄ splice-site mutations [(p. Arg986Trp)+(c. 5940–1G> C),(p. Asn1380Ser)+(c. 5128+ 3A> G), respectively]. Patient 4 had compound heterozygosity