Tags

Type your tag names separated by a space and hit enter

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
Am J Med Genet A. 2009 Nov; 149A(11):2452-6.AJ

Abstract

We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested.

Authors+Show Affiliations

II School of Medicine, Sapienza University, Roma, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19839044

Citation

Piane, Maria, et al. "Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II) Syndrome Previously Diagnosed as Seckel Syndrome: Report of a Novel Mutation of the PCNT Gene." American Journal of Medical Genetics. Part A, vol. 149A, no. 11, 2009, pp. 2452-6.
Piane M, Della Monica M, Piatelli G, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A. 2009;149A(11):2452-6.
Piane, M., Della Monica, M., Piatelli, G., Lulli, P., Lonardo, F., Chessa, L., & Scarano, G. (2009). Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. American Journal of Medical Genetics. Part A, 149A(11), 2452-6. https://doi.org/10.1002/ajmg.a.33035
Piane M, et al. Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II) Syndrome Previously Diagnosed as Seckel Syndrome: Report of a Novel Mutation of the PCNT Gene. Am J Med Genet A. 2009;149A(11):2452-6. PubMed PMID: 19839044.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. AU - Piane,Maria, AU - Della Monica,Matteo, AU - Piatelli,Gianluca, AU - Lulli,Patrizia, AU - Lonardo,Fortunato, AU - Chessa,Luciana, AU - Scarano,Gioacchino, PY - 2009/10/20/entrez PY - 2009/10/20/pubmed PY - 2010/1/7/medline SP - 2452 EP - 6 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 149A IS - 11 N2 - We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/19839044/Majewski_osteodysplastic_primordial_dwarfism_type_II__MOPD_II__syndrome_previously_diagnosed_as_Seckel_syndrome:_report_of_a_novel_mutation_of_the_PCNT_gene_ L2 - https://doi.org/10.1002/ajmg.a.33035 DB - PRIME DP - Unbound Medicine ER -