Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.
Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.
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DOI：
10.3390/children8090751
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发表时间：
2021-08-30
期刊：
影响因子：
--
通讯作者：
Rusu C
中科院分区：
文献类型：
--
作者：
Gavril EC;Luca AC;Curpan AS;Popescu R;Resmerita I;Panzaru MC;Butnariu LI;Gorduza EV;Gramescu M;Rusu C
Wolf-Hirschhorn综合征（WHS）是一种罕见的疾病，由远端4p缺失决定，其特征是产前和产后生长迟缓，张力低下，智力残疾，癫痫，颅面畸形和先天性融合异常。临床方面取决于缺失的大小。我们的目的是在7例4p缺失的队列中确定罕见的特异性特征，并评估多重连接依赖探针扩增（MLPA）（廉价而敏感的测试）组合试剂盒的实用性，作为需要其他调查（染色体微阵列分析- cma，核型）的病例的诊断测试和选择工具。对于所有病例，我们进行了临床检查，确定了主要特征：面部畸形、智力残疾、出生后发育迟缓、心脏缺陷和张力低下。在一些病例中，我们观察到癫痫发作、结构性脑异常、免疫缺陷和肾脏异常。产前生长迟缓在相对少数的病例中被发现，但产后生长衰竭是一个恒定的特征。在所有病例中，临床诊断均通过遗传分析证实：核型和/或MLPA。总之，肾和脑缺陷，以及免疫缺陷是罕见的表现，应注意。虽然CMA是标准检查，但根据我们的经验，MLPA也是一种可靠的筛查方法，因为所识别的病例要么被MLPA确认，要么被选中进行进一步调查。
Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.
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影响因子：
3.9
作者：
Limeres J;Serrano C;De Nova JM;Silvestre-Rangil J;Machuca G;Maura I;Cruz Ruiz-Villandiego J;Diz P;Blanco-Lago R;Nevado J;Diniz-Freitas M
通讯作者：
Diniz-Freitas M
DOI：
10.2478/bjmg-2014-0021
发表时间：
2014-06
期刊：
Balkan journal of medical genetics : BJMG
影响因子：
--
作者：
Sukarova-Angelovska E;Kocova M;Sabolich V;Palcevska S;Angelkova N
通讯作者：
Angelkova N
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影响因子：
--
作者：
Jiang, Yanrui;Sun, Huizhen;Yao, Ruen
通讯作者：
Yao, Ruen
影响因子：
3.5
作者：
Wright, TJ;Ricke, DO;Altherr, MR
通讯作者：
Altherr, MR
影响因子：
--
作者：
Kim, Jeong Hyun;Oh, Phil Soo;Cho, Hyoun Chan
通讯作者：
Cho, Hyoun Chan