Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)
In this study, we present a case with distal 3p duplication and 22q13.3 deletion due to unbalanced meiotic segregation in her father carrying a balanced translocation. The 2-month-old girl was examined for her severe hypotonia, developmental delay, and mild dysmorphic appearance. Clinical features include broad forehead, hypertelorism, laterally extended eyebrows, long eyelashes, a depressed nasal root, bifid nasal tip, long philtrum, thin lips, posteriorly rotated ears, short neck, partial syndactyly of the right hand (fingers 3, 4) , and partial syndactyly of the right foot (toes 2, 3). After examination, the final karyo...
Source: Molecular Syndromology - June 9, 2020 Category: Molecular Biology Source Type: research
Intrafamilial Variability in < b > < i > LPIN1 < /i > < /b > -Related Rhabdomyolysis
This report expands the phenotypic spectrum ofLPIN1-related rhabdomyolysis, illustrating high intrafamilial variability.Mol Syndromol 2020;11:153-156 (Source: Molecular Syndromology)
Source: Molecular Syndromology - May 26, 2020 Category: Molecular Biology Source Type: research
How Many Genes Does It Take?
Mol Syndromol 2020;11:59-61 (Source: Molecular Syndromology)
Source: Molecular Syndromology - April 21, 2020 Category: Molecular Biology Source Type: research
Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C > T in < b > < i > PACS1 < /i > < /b > and Hypogammaglobulinemia Phenotype
We report a Turkish child with a novel pathogenic variant inPQBP1 and a likely pathogenic variant in thePACS1 gene presenting with growth restriction, microcephaly, ID, micropenis, bilateral iris coloboma, and hypogammaglobulinemia. Cytogenetic investigations, including a high-resolution-banded karyotype, were normal. Clinical exome sequencing was performed. We found the novelPQBP1 variant, c.640C>T; p.(Arg214Trp), and the knownPACS1 variant, c.607C>T; p.(Arg203Trp), in the proband. The patient's hypogammaglobulinemia did not respond to treatment. This condition was detected for the first time in a patient with Renpenning ...
Source: Molecular Syndromology - April 16, 2020 Category: Molecular Biology Source Type: research
Proximal Deletion 12q with a New Insight to Growth Retardation
Proximal deletion of the long arm of chromosome 12 is a rare chromosomal abnormality described in about 20 patients. Known deletions span the region from 12q11 to 12q13 and include the genesYAF2,AMIGO2, andNELL2. These are suggested as candidate genes for the key phenotypic features such as growth and psychomotor retardation. Here, we present a case with a 3.1-Mb interstitial deletion at 12q12q13.11. The clinical observations of our patient overlap with the major common findings for published cases. The deletion detected in our patient does not involve the previously suggested candidate genesYAF2 andAMIGO2. We draw a corre...
Source: Molecular Syndromology - April 9, 2020 Category: Molecular Biology Source Type: research
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
We report a 10 year follow-up on a girl with 2 copies of isochromosome consisting of the short arm of chromosome 12, who has craniofacial features seen in PKS, such as sparse hair with an unusual pattern, sparse eyebrows, lacrimal duct stenosis, submucous cleft palate, Pallister lip (a relatively long philtrum continuing into the vermillion border of the upper lip), narrow palate, and wide alveolar ridges. She also has other abnormalities, including unilateral renal dysgenesis, rectovaginal fistula, pre-axial polydactyly of the right hand, severe global developmental delay, and hypotonia as well as some features suggestive...
Source: Molecular Syndromology - April 9, 2020 Category: Molecular Biology Source Type: research
22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum
Distal duplication 22q (22q13.3qter) is a rare condition with only 24 cases described so far. Parental balanced reciprocal translocations and pericentric inversions involving chromosome 22 predispose to the conception of an unbalanced offspring and are more frequently reported than de novo events. The clinical phenotype of patients is highly variable and does not necessarily correlate with the extent of the duplicated segment. Short stature, microcephaly, hypertelorism, cleft lip or palate, low-set ears, and intellectual disability seem to be the most consistent features. Familial reoccurrence is extremely rarely reported....
Source: Molecular Syndromology - April 3, 2020 Category: Molecular Biology Source Type: research
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth
We report 5 newborns affected with SHFYNG in one family. Trio exome analysis revealed a heterozygous c.1996dupC frameshift mutation inMAGEL2 inherited from the unaffected father. The phenotypes showed strong resemblance, especially for severe respiratory disturbance requiring mechanical ventilation at birth. After discharge from the hospital, 4 of the patients died of respiratory insufficiency within 1 or 2 weeks after birth, and 1 child died after 110 days of aggravated apnea. Apnea or respiratory failure was the main cause of early death in this family. Respiratory distress is a common manifestation of SHFYNG, especially...
Source: Molecular Syndromology - July 2, 2019 Category: Molecular Biology Source Type: research
A Recurrent Variant in < b > < i > MAGEL2 < /i > < /b > in Five Siblings with Severe Respiratory Disturbance after Birth
We report 5 newborns affected with SHFYNG in one family. Trio exome analysis revealed a heterozygous c.1996dupC frameshift mutation inMAGEL2 inherited from the unaffected father. The phenotypes showed strong resemblance, especially for severe respiratory disturbance requiring mechanical ventilation at birth. After discharge from the hospital, 4 of the patients died of respiratory insufficiency within 1 or 2 weeks after birth, and 1 child died after 110 days of aggravated apnea. Apnea or respiratory failure was the main cause of early death in this family. Respiratory distress is a common manifestation of SHFYNG, especially...
Source: Molecular Syndromology - July 2, 2019 Category: Molecular Biology Source Type: research
Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome
We report 2 cases of girls withMECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - July 1, 2019 Category: Molecular Biology Source Type: research
Novel < b > < i > MECP2 < /i > < /b > Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome
We report 2 cases of girls withMECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - July 1, 2019 Category: Molecular Biology Source Type: research
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?
Basel-Vanagaite-Smirin-Yosef syndrome (OMIM 616449) is a rare autosomal recessive genetic disorder characterized by severe developmental delay and variable craniofacial, neurological, cardiac, and ocular anomalies in the presence of variants in theMED25 gene. So far, only a handful of patients have been reported with this condition globally. Here, we report an additional Lebanese family with 2 affected siblings presenting with severely delayed psychomotor and language development as well as craniofacial anomalies. By whole-exome sequencing (WES), a homozygous variant was found in theMED25 gene, c.518T>C, predicted to resul...
Source: Molecular Syndromology - June 27, 2019 Category: Molecular Biology Source Type: research
Concurrent Structural and Single Nucleotide Variation Resulting from a Single Replication-Based Mechanism
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - June 27, 2019 Category: Molecular Biology Source Type: research
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions
In conclusion, the 6q27 microdeletion is a complex syndrome with variable expressivity of brain malformations and intellectual disability phenotypes which are possibly triggered by the 4 genes described and adjacent genes susceptible to gene regulation changes.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - June 20, 2019 Category: Molecular Biology Source Type: research
A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
Long intergenic noncoding RNAs (lincRNAs) are a class of noncoding RNAs implicated in several biological processes. LincRNA 299 (LINC00299) maps to 2p25.1 and its function is still unknown. However, this gene has been proposed as a candidate for intellectual disability (ID) in a patient with a balanced translocation where the breakpoint disrupted its ORF. Here, we describe a new case ofLINC00299 disruption associated with ID. The individual, a 42-year-old woman, was referred to the clinical geneticist because of her son who had severe syndromic ID. G-banding and chromosomal microarray analysis were performed. Karyotyping o...
Source: Molecular Syndromology - June 6, 2019 Category: Molecular Biology Source Type: research
