Author Index
Mol Syndromol 2019;10:124 (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 22, 2019 Category: Molecular Biology Source Type: research
Title Page / Table of Contents
Mol Syndromol 2019;10:1-4 (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 22, 2019 Category: Molecular Biology Source Type: research
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the femurs, genu varum, and metaphyseal fraying and splaying, who is a carrier of a novel heterozygous 2-bp (c.1894_1895dupTA; p.Leu633Thrf s*45) duplication in exon 3 of theCOL10A1gene.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 12, 2019 Category: Molecular Biology Source Type: research
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in < b > < i > COL10A1 < /i > < /b >
We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the femurs, genu varum, and metaphyseal fraying and splaying, who is a carrier of a novel heterozygous 2-bp (c.1894_1895dupTA; p.Leu633Thrf s*45) duplication in exon 3 of theCOL10A1gene.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 8, 2019 Category: Molecular Biology Source Type: research
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
A patient referred for prenatal diagnostics, after first-trimester ultrasound due to a previous child with Leber congenital amaurosis, was suggestive of a Meckel syndrome-like phenotype. Fetal autopsy confirmed the multiple anomalies, and whole-exome sequencing of the fetal DNA identified a pathogenic variant in theRPGRIP1 gene, previously identified in the elder sibling, and a variant causative of Meckel syndrome 1 in theMKS1gene. Reporting theMKS1 mutation, which was present in heterozygous state in the elder sibling, as a secondary finding would have enabled the parents to be tested for carrier status of the same varian...
Source: Molecular Syndromology - January 21, 2019 Category: Molecular Biology Source Type: research
1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum
In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42.2 region in a 4-year-old boy with hypoplastic corpus callosum, epilepsy, developmental delay, microcephaly, cata ract, cleft palate, and skeletal changes. The deletion was de novo. Genotype-phenotype correlations suggest that the major features of 1q42.12q42.2 microdeletion were attributed to the genes with a high probability of loss-of-function intolerance score in this deletion, namelyLBR, ENAH, ACBD3, LIN9, ITPKB, CDC42BPA, ARF1, TAF5L, GALNT2, SPRTN, andEGLN1along with GNPAT.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 15, 2019 Category: Molecular Biology Source Type: research
Syndromic Craniosynostosis: Complexities of Clinical Care
Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.Mol Syndromol 2019;10:79-93 (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 15, 2019 Category: Molecular Biology Source Type: research
< b > < i > HNRNPU < /i > < /b > : Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism
Mol Syndromol 2018;9:275-278 (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 14, 2019 Category: Molecular Biology Source Type: research
Novel Mutations and Unreported Clinical Features in KBG Syndrome
We report 12 unrelated patients where a clinical diagnosis of KBG was suspected and confirmed by targeted analyses. Nine patients showed a point mutation inANKRD11 (none of which were previously reported) and 3 carried a 16q24.3 deletion. All patients presented with typical facial features and macrodontia. Skeletal abnormalities were constant, and the majority of patients showed joint stiffness. Three patients required growth hormone treatment with a significant increase of height velocity. Brain malformations were identified in 8 patients. All patients showed behavioral abnormalities and most had developmental delay. Two ...
Source: Molecular Syndromology - January 14, 2019 Category: Molecular Biology Source Type: research
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a < b > < i > TRPV4 < /i > < /b > Pathogenic Variant
We present an additional patient who has an overlapping neuromuscular and skeletal phenotype secondary to aTRPV4 pathogenic variant. The patient has spondylometaphyseal dysplasia-Kozlowski type and Charcot-Marie-Tooth disease type 2C. This and prior reports illustrate thatTRPV4-related skeletal dysplasias andTRPV4-related neuropathies are not fully distinct disorders secondary to unique sets of pathogenic variants as originally postulated, but rather are 2 phenotypes on the same spectrum that may or may not overlap. We suggest that evaluation for patients presenting with anyTRPV4-related disorder include assessment for bot...
Source: Molecular Syndromology - December 20, 2018 Category: Molecular Biology Source Type: research
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome
We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this patient are compared with 13 patients reported previously. A common critical region (CCR) of 1.4 Mb (54-55.4 Mb) is defined in all cases including the present one. Of the 14 genes present in CCR,IL6ST is proposed to be the candidate gene for immunodeficiency observed in some of these patients.IL6ST encodes gp130, a signal transduction protein for various interleukins and cytokines. It is involved in the ge...
Source: Molecular Syndromology - December 20, 2018 Category: Molecular Biology Source Type: research
HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - November 30, 2018 Category: Molecular Biology Source Type: research
8p11 Microduplication Is Associated with Neonatal Stridor
We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of the short arm of chromosome 8 (8p11.21p11.1). We report novel clinical findings of this rare genetic condition.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - November 20, 2018 Category: Molecular Biology Source Type: research
Current Approaches in the Development of Molecular and Pharmacological Therapies in Craniosynostosis Utilizing Animal Models
The development of the craniofacial skeleton is a spatial and temporal process where cranial sutures play a role in the regulation of morphogenesis and growth. Disruption of these cellular and molecular interactions may lead to craniosynostosis, the premature obliteration of one or more cranial sutures, yielding skull growth restriction and malformation perpendicular to the affected suture. Facial deformity and various functional CNS anomalies are other frequent complications. Cranial vault expansion and reconstructive surgery remain the mainstay of treatment but pose an elevated risk of morbidity for the infant. While the...
Source: Molecular Syndromology - November 16, 2018 Category: Molecular Biology Source Type: research
17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature
We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with growth hormone deficiency. The boy was addressed to the endocrine division for growth retardation (weight and height (Source: Molecular Syndromology)
Source: Molecular Syndromology - November 15, 2018 Category: Molecular Biology Source Type: research
