Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of < b > < i > PIEZO2 < /i > < /b > Mutations and Review of the Literature
The recessivePIEZO2-associated disease, distal arthrogryposis with impaired proprioception and touch (DAIPT), is characterized by hypotonia, perinatal respiratory distress, significantly delayed motor milestones, and progressive symptoms of distal arthrogryposis and scoliosis. Here, we describe the youngest patient with DAIPT to date, who, at the age of 3.5 years, did not show a single clinical sign of distal arthrogryposis or contractures, but had a history of bilateral clubfoot operations. On the contrary, he presented with some features, not described thus far, such as syringohydromyelia, a small cyst of the spinal cord...
Source: Molecular Syndromology - November 12, 2018 Category: Molecular Biology Source Type: research
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants
We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including microcephaly, sparse hair, bilateral epicanthal folds, ataxia, seizures, and elevated lactate and pyruvate levels in serum. Whole exome sequencing was carried out on the patient's DNA. Potentially causal homozygous variants in theMED25(p.Ile173Thr) andCOQ8A (p.Arg512Trp) genes were found. The potential pathogenicity of these variants, and the possibility that the 2 variants could synergistically act to produce the phenotype report...
Source: Molecular Syndromology - November 9, 2018 Category: Molecular Biology Source Type: research
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization
Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) has been well documented in the literature and is a new entity within the latest revised edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues (OMIM). The disorder arises due to mutations within theRUNX1 gene in chromosome 21; mutations within the Runt-binding domain are the most commonly encountered anomalies that cause decreased platelet count and function. Rare cases of haploinsufficiency have also been shown to cause this disorder. Here, we describe a 12-year-old female with mosaicism for a ring chromosome 21 ...
Source: Molecular Syndromology - November 9, 2018 Category: Molecular Biology Source Type: research
< b > < i > COQ8A < /i > < /b > and < b > < i > MED25 < /i > < /b > Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including microcephaly, sparse hair, bilateral epicanthal folds, ataxia, seizures, and elevated lactate and pyruvate levels in serum. Whole exome sequencing was carried out on the patient's DNA. Potentially causal homozygous variants in theMED25(p.Ile173Thr) andCOQ8A (p.Arg512Trp) genes were found. The potential pathogenicity of these variants, and the possibility that the 2 variants could synergistically act to produce the phenotype report...
Source: Molecular Syndromology - November 8, 2018 Category: Molecular Biology Source Type: research
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of < b > < i > RUNX1 < /i > < /b > : Cytogenetic and Molecular Characterization
Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) has been well documented in the literature and is a new entity within the latest revised edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues (OMIM). The disorder arises due to mutations within theRUNX1 gene in chromosome 21; mutations within the Runt-binding domain are the most commonly encountered anomalies that cause decreased platelet count and function. Rare cases of haploinsufficiency have also been shown to cause this disorder. Here, we describe a 12-year-old female with mosaicism for a ring chromosome 21 ...
Source: Molecular Syndromology - November 8, 2018 Category: Molecular Biology Source Type: research
Identification of an Autosomal Dominant Mutation in the < b > < i > COL2A1 < /i > < /b > Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
In conclusion, we describe a patient with hereditary spondyloepiphyseal dysplasia congenita, caused by a c.1609G_A (p.Gly537Ser) mutation in theCOL2A1 gene, which resulted in a milder phenotype.Mol Syndromol 2018;9:241-246 (Source: Molecular Syndromology)
Source: Molecular Syndromology - November 7, 2018 Category: Molecular Biology Source Type: research
Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society
In the last decade, a number of important research advances in different fields have allowed Down syndrome (DS) research to flourish, creating a time of both unparalleled opportunity and considerable challenge. Building a scientific framework that distills mechanisms involved in the developmental intellectual disability of DS as well as the early-onset component of Alzheimer disease and the several other comorbidities associated with the condition is a challenge that scientists are now tackling using novel technologies and multidisciplinary approaches. The Trisomy 21 Research Society (T21RS) was founded in 2014 to address ...
Source: Molecular Syndromology - October 29, 2018 Category: Molecular Biology Source Type: research
Michael Schmid (1948-2018): A Life Devoted to Science
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - October 16, 2018 Category: Molecular Biology Source Type: research
The Osteogenic Potential of the Neural Crest Lineage May Contribute to Craniosynostosis
The craniofacial skeleton is formed from the neural crest and mesodermal lineages, both of which contribute mesenchymal precursors during formation of the skull bones. The large majority of cranial sutures also includes a proportion of neural crest-derived mesenchyme. While some studies have addressed the relative healing abilities of neural crest and mesodermal bone, relatively little attention has been paid to differences in intrinsic osteogenic potential. Here, we use mouse models to compare neural crest osteoblasts (from frontal bones or dura mater) to mesodermal osteoblasts (from parietal bones). Using in vitro cultur...
Source: Molecular Syndromology - October 12, 2018 Category: Molecular Biology Source Type: research
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
This report provides further insight into the pathogenicity of the Xp22.31 duplication by extending knowledge of its clinical features. This case, in association with those reported in the literature, indicates that the Xp22.31 duplication may contribute to cause pathological phenotypes with minor facial dysmorphisms, microcephaly, and intellectual disability as main features.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - October 5, 2018 Category: Molecular Biology Source Type: research
Understanding Craniosynostosis: Clinical Practice to Basic Science
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 11, 2018 Category: Molecular Biology Source Type: research
Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
In conclusion, we describe a patient with hereditary spondyloepiphyseal dysplasia congenita, caused by a c.1609G_A (p.Gly537Ser) mutation in theCOL2A1 gene, which resulted in a milder phenotype.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 2, 2018 Category: Molecular Biology Source Type: research
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder
This report highlights the utility of functional studies newly available to clinical practice in confirming a suspected genetic diagnosis, which can directly impact medical management and preclude the need for additional diagnostic testing.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - August 27, 2018 Category: Molecular Biology Source Type: research
Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia
Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for theTSSK1B (testis-specific serine/threonine kinase 1) gene in the patient's reproductive capacity. Semen analysis confirmed that the patient...
Source: Molecular Syndromology - August 23, 2018 Category: Molecular Biology Source Type: research
The Right Gene, Expressed at the Wrong Time, or at the Wrong Place
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - August 23, 2018 Category: Molecular Biology Source Type: research
