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Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Seckel syndrome (autosomal recessive) is a cause of severe growth failure and microcephaly and is the best recognised of the group of conditions known collectively as ‘microcephalic osteodysplastic primordial dwarfism’. Next-generation sequencing (NGS) gene panels are available to help achieve a diagnosis in this group.
Novel compound heterozygous mutations of PCNT gene in MOPD type II with central precocious puberty
Published in Gynecological Endocrinology, 2021
Yaping Ma, Zhuangjian Xu, Jinling Zhao, Handan Shen
Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is a highly harmful autosomal recessive genetic disease, characterized by intrauterine growth restriction, postnatal growth defects, and microcephaly [1]. It is mainly caused by the functional mutations in PCNT gene. The PCNT gene, mapped to 21q22.3, spans 122 kb of genomic sequence and contains 47 exons. It encodes pericentrin, a critical centrosomal protein. Pericentrin comprises 3,336 amino acid residues [2]. Pericentrin serves as a multifunctional scaffold for anchoring a wide range of centrosomal proteins and protein complexes during cell division [3] and interacts with g-tubulin which is required for microtubule nucleation [4]. The phenotype caused by PCNT mutations might reflect a role for spindle dysfunction in MOPD II. The disruption of pericentrin can lead to mislocalization of proteins, and cause mitotic spindle defects, chromosome missegregation, mitotic failure, cell arrest, and/or cell death [3].
Manufacture of custom‐made spectacles using three‐dimensional printing technology
Published in Clinical and Experimental Optometry, 2020
Emre Altinkurt, Nihan Aksu Ceylan, Umut Altunoglu, Gozde Tutku Turgut
A clinical diagnosis of MCPH/SCKS spectrum was made based on findings of distinctive facies, severe growth retardation and microcephaly, developmental delay and cranial magnetic resonance imaging findings. Molecular testing could not be performed. Callosal anomalies and cortical malformations such as pachygyria can be observed in a minority of MCPH/SCKS patients.2013 Cataracts are also infrequently reported in some forms of MCPH.2012 Microcephalic osteodysplastic primordial dwarfism type II was ruled out on clinical grounds due to the lack of typical skeletal features of the patient.