Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
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DOI：
10.1002/ajmg.a.35735
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发表时间：
2013-02-01
影响因子：
2
通讯作者：
Wieczorek, Dagmar
中科院分区：
文献类型：
--
作者：
Czeschik, Johanna Christina;Voigt, Claudia;Wieczorek, Dagmar
我们提出了两个以前未报告和无关的女性患者，一个与暂时诊断的肢端肥大症的面部外观（AFA），其他与暂时诊断的增生与肢端肥大症的面部外观（HAFF）与或不牙龈增生。HAFF的主要临床特征是全身性终末肥大和面部特征粗糙。在这两个病人，妊娠并发羊水过多，都有高胆红素血症和持续的胎儿循环。一名患者的发育正常，另一名患者略有延迟。13岁时，两人都有圆脸和丰满的脸颊，浓密的头发和眉毛，前额发际线较低，多毛症，关节过度伸展和深掌褶。其中1例还表现出牙龈肥大和内眦赘皮，另1例在出生时和13岁时出现大头畸形，并反复出现软组织肿胀。阵列分析排除了17q24.2-q24.3微缺失，这在伴有或不伴有牙龈增生的终末增生患者中已有报道。ABCC 9基因突变热点的测序显示两个不同的从头错义突变在两名患者。最近，在Cantu综合征患者中反复发现相同的突变。因此，我们建议ABCC 9突变导致以前称为Cantu综合征，HAFF和AFA的表型谱，这些表型可能无法通过临床标准明确区分，并且所有具有属于该谱的临床体征的患者都应重新访问并提供ABCC 9突变分析。(c)2013 Wiley Periodicals，Inc.
We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and coarse facial features. In both patients, pregnancy was complicated by polyhydramnios, and both had hyperbilirubinemia and persistent fetal circulation. Development was normal in one patient and slightly delayed in the other. At 13 years, both had round faces with full cheeks, thick scalp hair and eyebrows, a low frontal hairline, hirsutism, hyperextensible joints and deep palmar creases. One of them additionally showed gingival hypertrophy and epicanthus, the other one was macrocephalic at birth and at the age of 13 years and suffered from repeated swelling of the soft tissue. Array analysis excluded a 17q24.2-q24.3 microdeletion, which has been reported in patients with hypertrichosis terminalis with or without gingival hyperplasia. Sequencing of the mutational hotspots of the ABCC9 gene revealed two different de novo missense mutations in the two patients. Recently, identical mutations have been found recurrently in patients with Cantu syndrome. Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantu syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis. (c) 2013 Wiley Periodicals, Inc.