Citation
Li, Fei-Feng, et al. "Identification of Two Novel Critical Mutations in PCNT Gene Resulting in Microcephalic Osteodysplastic Primordial Dwarfism Type II Associated With Multiple Intracranial Aneurysms." Metabolic Brain Disease, vol. 30, no. 6, 2015, pp. 1387-94.
Li FF, Wang XD, Zhu MW, et al. Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. Metab Brain Dis. 2015;30(6):1387-94.
Li, F. F., Wang, X. D., Zhu, M. W., Lou, Z. H., Zhang, Q., Zhu, C. Y., Feng, H. L., Lin, Z. G., & Liu, S. L. (2015). Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. Metabolic Brain Disease, 30(6), 1387-94. https://doi.org/10.1007/s11011-015-9712-y
Li FF, et al. Identification of Two Novel Critical Mutations in PCNT Gene Resulting in Microcephalic Osteodysplastic Primordial Dwarfism Type II Associated With Multiple Intracranial Aneurysms. Metab Brain Dis. 2015;30(6):1387-94. PubMed PMID: 26231886.
TY - JOUR
T1 - Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
AU - Li,Fei-Feng,
AU - Wang,Xu-Dong,
AU - Zhu,Min-Wei,
AU - Lou,Zhi-Hong,
AU - Zhang,Qiong,
AU - Zhu,Chun-Yu,
AU - Feng,Hong-Lin,
AU - Lin,Zhi-Guo,
AU - Liu,Shu-Lin,
Y1 - 2015/08/01/
PY - 2015/04/26/received
PY - 2015/07/15/accepted
PY - 2015/8/2/entrez
PY - 2015/8/2/pubmed
PY - 2016/8/24/medline
KW - Critical genetic mutations
KW - Microcephalic osteodysplastic primordial dwarfism type II
KW - Moyamoya disease
KW - Multiple intracranial aneurysms
KW - PCNT
SP - 1387
EP - 94
JF - Metabolic brain disease
JO - Metab Brain Dis
VL - 30
IS - 6
N2 - Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of this work was to identify the genetic defects in a Chinese family with MOPD II associated with multiple intracranial aneurysms. The patient had typical MOPD II syndrome, with subarachnoid hemorrhage and multiple intracranial aneurysms. We identified three novel mutations in the PCNT gene, including one single base alteration (9842A>C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41). The deletions were co-segregated with the affected individual in the family and were not present in the control population. Computer modeling demonstrated that the deletions may cause drastic changes on the secondary and tertiary structures, affecting the hydrophilicity and hydrophobicity of the mutant proteins. In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling.
SN - 1573-7365
UR - https://www.unboundmedicine.com/medline/citation/26231886/Identification_of_two_novel_critical_mutations_in_PCNT_gene_resulting_in_microcephalic_osteodysplastic_primordial_dwarfism_type_II_associated_with_multiple_intracranial_aneurysms_
L2 - https://doi.org/10.1007/s11011-015-9712-y
DB - PRIME
DP - Unbound Medicine
ER -