A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
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DOI：
10.1186/1752-1947-8-191
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发表时间：
2014-06-13
影响因子：
1
通讯作者：
Isaza C
中科院分区：
文献类型：
--
作者：
Pachajoa H;Ruiz-Botero F;Isaza C
小头畸形性骨发育不良性原始侏儒症是一种以胎儿宫内生长受限、出生后生长缺陷和小头畸形为特征的综合征。小头畸形性骨发育不良性原始侏儒症II型是这组疾病中最具特色的综合征。受这种疾病影响的个体表现为成年身高小于100厘米，青春期后头围小于或等于40厘米，轻度智力迟钝，性格外向和骨骼发育不良。我们报告的第一例5岁的哥伦比亚男孩的混合种族血统（mestizo），临床特征的小头畸形，突出和狭窄的鼻子，拱形腭，釉质发育不全，身材矮小，高而窄的骨盆，前臂和腿不成比例的缩短，和轻度髋内翻。通过测序分析PCNT基因，显示外显子10中存在核苷酸变化，c。1468C>T，证明了一个新的突变，在文献中没有报道的小头骨发育不良性原始侏儒症。在这种情况下发现的新突变可能与疾病表型表达的严重程度相关，导致患者身材极度矮小。需要进一步的研究来解释这些发现，并且强调流行病学监测小组对出生缺陷和罕见疾病进行检测和跟踪的重要性。
Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100cm, a post-pubertal head circumference of 40cm or less, mild mental retardation, an outgoing personality and bone dysplasia. We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases.